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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of heme metabolism abnormalities
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
CLCC Antoine Lacassagne
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Dosage of urine porphyria and its urine precursors (ALA, PBG)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

TOSCANA
FIRENZE

Accreditation Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of Crigler-Najjar syndrome
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of Porphyria (CPOX, FECH, HMBS, PPOX, UROD genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Italienne
GENTILINO

Accreditation Molecular diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
LDM - Laboratorio di Diagnostica Molecolare S.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of Crigler-Najjar syndrome
Groupe Hospitalier Paris Saint-Joseph
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of progressive familial intrahepatic cholestasis
Groupe Hospitalier Paris Saint-Joseph
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

LIEGE
LIEGE

Accreditation Diagnosis of intrahepatic cholestasis (gene panel)
CHU de Liège - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of hemochromatosis and other abnormalities of iron metabolism (gene panel)
Cliniques Universitaires de Bruxelles - Hôpital Erasme
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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GERMANY

Bayern
MARTINSRIED/PLANEGG

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Martinsried GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

Tayside
DUNDEE

Accreditation Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
MANNHEIM

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Alémanique
BERN

Accreditation Diagnosis of Crigler - Najjar syndrome (UGT1A1 gene)
Universitätsspital Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Crigler-Najjar / Gilbert syndrome (UGT1A1 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Acute Intermittent Porphyria (HMBS gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Acute Intermittent Porphyria (hydroxymethylbilane synthase (HMBS) testing)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Hereditary Coproporphyria (Analyte: coproporphyrinogen oxidase (CPOX) testing)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Variegate Porphyria (protoporphyrinogen oxidase (PPOX) testing)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Porphyria Cutanea Tarda (uroporphyrinogen decarboxylase (UROD) testing)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Congenital Erythropoietic Porphyria (uroporphyrinogen III synthase (UROS) testing)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Erythropoietic Protoporphyria (FECH & ALAS2 genes)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Familial Intrahepatic Cholestasis type 1, 2 and 3 (ATP8B1, ABCB11 and ABCB4 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Diagnosis of Progressive Familial Intrahepatic Cholestasis type 1, 2, 3 and 5 (ATP8B1, ABCB11, ABCB4 and NR1H4 gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Biochemical and Molecular diagnosis of Porphyria of Doss(metabolite profiles in urine- ALAD gene activity)
Stadtspital Zürich Triemli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Biochemical and Molecular diagnosis of Congenital Erythropoietic Porphyria (metabolite profiles in urine/faeces/blood-screening UROS gene)
Stadtspital Zürich Triemli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Biochemical and Molecular diagnosis of Erythropoietic Protoporphyria (metabolite profiles in urine/faeces/blood - screening FECH gene)
Stadtspital Zürich Triemli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Biochemical diagnosis of Porphyria Cutanea Tarda (metabolite profiles in urine/faeces/blood)
Stadtspital Zürich Triemli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Biochemical diagnosis of Hepatoerythropoietic Porphyria (metabolite profiles in urine/faeces/blood)
Stadtspital Zürich Triemli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of acute intermittent porphyria (metabolite profiles in urine/faeces/blood - enzyme assay - screening HMBS gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of porphyria of doss (metabolite profiles in urine/faeces/blood - enzyme assay - screening ALAD gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of erythropoietic Protoporphyria (metabolite profiles in urine/faeces/blood - screening FECH gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of congenital erythropoietic porphyria (metabolite profiles in urine/faeces/blood - screening UROS gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of chronic hepatic porphyria (metabolite profiles in urine/faeces/blood - enzyme activity - screening UROD gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of hereditary coproporphyria (metabolite profiles in urine/faeces/blood - screening CPOX gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of of variegate porphyria (metabolite profiles in urine/faeces/blood - screening PPOX gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of Porphyria (ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Diagnosis of Porphyria (CPOX, FECH, HMBS, PPOX, UROD genes)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Porphyria Cutanea Tarda (UROD gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Porphyria Variegata (PPOX gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Coproporphyria (CPOX gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Erythropoietic Protoporphyria (FECH gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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GERMANY

Bayern
NEU-ULM

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of acute intermittent porphyria (HMBS gene)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of coproporphyria (CPOX gene)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of porphyria variegata (PPOX gene)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Diagnosis of Benign Recurrent Intrahepatic Cholestasis type 1 and 2 (ATP8B1 and ABCB11 gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene: sequencing of exons 1-5)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Diagnosis of Dubin-Johnson syndrome (ABCC2 gene: sequencing)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Romande
GENÈVE

Accreditation Diagnosis of ABCB4 gene - related disorders (PFIC3, Intrahepatic cholestasis of pregnancy, Low phospholipid associated cholestasis)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Acute Intermittent Porphyria (HMBS gene)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Porphyria Variegata (PPOX gene)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Porphyria Cutanea Tarda (UROD gene)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Hereditary Coproporphyria (CPOX gene)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Erythropoietic Protoporphyria (FECH and ALAS2 gene)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Porphyria due to ALA Dehydratase Deficiency (ALAD gene)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Porphyria (heme biosynthesis intermediates in urine, faeces and blood using ion-exchange chromatography, fluorimetry, haematofluorimetry, plasma emission scanning and HPLC with fluorescent detection)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Acute Intermittent Porphyria (metabolite profiles in urine/blood and PBG-deaminase enzyme assay)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Porphyria Variegata (metabolite profiles in urine/blood)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Porphyria Cutanea Tarda (metabolite profiles in urine/blood and UROD enzyme assay)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Hereditary Coproporphyria (metabolite profiles in urine/faeces/blood)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Erythropoietic Protoporphyria (metabolite profiles in urine/blood)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Porphyria due to ALA Dehydratase Deficiency (metabolite profiles in urine/blood and ALAD enzyme assay)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Biochemical and Molecular diagnosis of Acute intermittent Porphyria (urinary porphyrins, aminolevulinic acid, porphobilinogen and HMBS mutation - activity analysis)
Stadtspital Zürich Triemli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Biochemical diagnosis of Hereditary coproporphyria (metabolite profiles in urine/faeces/blood)
Stadtspital Zürich Triemli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Biochemical and Molecular diagnosis of Variegata porphyria (metabolite profiles in urine/faeces/blood - screening PPOX gene)
Stadtspital Zürich Triemli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular diagnosis of progressive familial intrahepatic cholestasis type 1 (ATP8B1 gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular diagnosis of progressive familial intrahepatic cholestasis type 2 (ABCB11 gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular diagnosis of progressive familial intrahepatic cholestasis type 3 (ABCB4 gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
REGENSBURG

Accreditation Diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of erythropoietic protoporphyria (FECH and ALAS2 genes)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of porphyria due to ALA dehydratase deficiency (ALAD genes)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of congenital erythropoietic porphyria (UROS, GATA1 genes)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of hepatoerythropoietic porphyria and porphyria cutanea tarda (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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AUSTRIA

STEIERMARK
GRAZ

Accreditation Diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, and ATP8B1 genes)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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AUSTRIA

STEIERMARK
GRAZ

Accreditation Diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Bayern
MARTINSRIED/PLANEGG

Accreditation Diagnosis of Porphyria (NGS screening panel, 8 genes)
MVZ Martinsried GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Diagnosis of acute intermittent porphyria (HMBS gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of acute intermittent porphyria (HMBS gene)
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation Diagnosis of ABCB4 gene - related disorders (PFIC3, Intrahepatic cholestasis of pregnancy, Low phospholipid associated cholestasis)
Synlab Lausanne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Porphyria (ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS genes)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of progressive familial intrahepatic cholestasis type 3 (ABCB4 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of porphyria (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of progressive and benign recurrent familial intrahepatic cholestasis type 1 (ATP8B1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of progressive and benign recurrent familial intrahepatic cholestasis type 2 (ABCB11 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
MÜNCHEN

Accreditation Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of erythropoietic protoporphyria (ALAS2 gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of erythropoietic protoporphyria (ALAS2 gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of intrahepatic cholestasis (ABCB4, ATP8B1 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of hereditary North American Indian childhood cirrhosis (CIRH1A gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
SAINT-MANDÉ

Accreditation Diagnosis of progressive familial intrahepatic cholestasis type 3 (ABCB4 gene)
Hôpital d'Instruction des Armées Bégin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of Rotor syndrome (SLCO1B1, SLCO1B3 genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Diagnosis of erythropoietic protoporphyria (FECH gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of porphyria (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of genetic cholestases, liver disorders and hepatocellular insufficiency (Panel)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

OCCITANIE
MONTPELLIER

Accreditation Diagnosis of sideroblastic anemia (Panel)
CHU de Montpellier - Hôpital Saint-Eloi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of X-linked erythropoietic protoporphyria (ALAS2 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Porphyria (ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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AUSTRIA

OBERÖSTERREICH
LINZ

Accreditation Molecular genetic analysis of the UGT1A1 gene
Ordensklinikum Linz GmbH Barmherzige Schwestern
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation Diagnosis of acute intermittent porphyria (HMBS gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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IRELAND

County Dublin
DUBLIN

Accreditation Molecular diagnosis of Byler Disease (ATPbB1 gene c.3622_3628delGCCTACG ATP8B1 Irish Travellers only)
Children's Health Ireland @ Crumlin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of sideroblastic anemia (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SWITZERLAND

Suisse Alémanique
BERN

Accreditation Diagnosis of Malabsorption and Diarrhea (Panel)
Universitätsspital Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of Acute Intermittent Porphyria (hydroxymethylbilane synthase (HMBS) testing)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of Hereditary Coproporphyria (Analyte: coproporphyrinogen oxidase (CPOX) testing)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of Variegate Porphyria (protoporphyrinogen oxidase (PPOX) testing)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of Porphyria Cutanea Tarda (uroporphyrinogen decarboxylase (UROD) testing)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of Congenital Erythropoietic Porphyria (uroporphyrinogen III synthase (UROS) testing)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of Erythropoietic Protoporphyria (FECH & ALAS2 genes)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Diagnosis of Porphyria variegata (PPOX gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Molecular diagnosis of Progressive familial intrahepatic cholestasis types 1, 2, and 3 (ATP8B1, ABCB11, and ABCB4 genes)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Intrahepatic Cholestasis (gene panel; MET02v16.2)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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AUSTRIA

WIEN
WIEN

Accreditation Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Alémanique
BERN

Accreditation Diagnosis of Liver diseases (Panel)
Universitätsspital Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Neonatal and Paediatric Cholestasis (gene panel; MET09v16.2)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Syndrome with Cholestasis (gene panel; MET10v16.2)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of neuropathies (NGS screening panel, 269 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of Rotor syndrome (SLCO1B1, SLCO1B3 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of hematopoietic defects (NGS screening panel: 183 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of rare liver diseases (NGS screening panel, 118 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of sideroblastic and not sideroblastic anemia bound to the iron's metabolism (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Cholestasis (PFIC gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Crigler-Najjar Syndrome type 1 and 2 (UGT1A1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Porphyria Cutanea Tarda (HFE gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of X-linked Sideroblastic Anemia (ALAS2 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Niedersachsen
HANNOVER

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Niedersachsen
HANNOVER

Accreditation Diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of inherited disorders of cholestasis and related disorders (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of Dubin-Johnson syndrome and Rotor syndrome (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation Diagnosis of chronic diarrhea and cholestasis (Panel)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Heme Oxygenase-1 Deficiency (HMOX1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of rare genetic skin diseases (gene panel)
Cliniques Universitaires de Bruxelles - Hôpital Erasme
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of progressive intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1, NR1H4, TJP2 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of porphyria (gene panel)
Cliniques Universitaires de Bruxelles - Hôpital Erasme
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SWITZERLAND

Suisse Romande
GENÈVE

Accreditation Diagnosis of porphyria (panel)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation Diagnosis of Rotor syndrome (SLCO1B1, SLCO1B3 genes)
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation Diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of Low-Phospholipid Associated Cholelithiasis, cholestasis and bilirubinopathies (Panel)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of porphyria (urinary porphyrins)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of acute hepatic porphyria (aminolevulinic acid (ALA) in urine)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of acute hepatic porphyria (porphobilinogen (PBG) in urine)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of porphyria (stool porphyrins)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of porphyria (Blood porphyrins)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of porphyria (plasma porphyrins)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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AUSTRIA

WIEN
WIEN

Accreditation Diagnosis of Crigler-Najjar and Gilbert syndromes (UGT1A1 gene)
ARCHIMED Life Science GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of constitutional hemolysis (Panel EKTA)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Diagnosis of inborn errors of metabolism (Panel)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of sideroblastic anemia and related to iron metabolism (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of congenital dyserythropoiesis (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation Diagnosis of inborn errors of metabolism (Whole Exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation Diagnosis of Crigler-Najjar syndrome
MVZ Laborärzte Singen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NORWAY

Vestlandet
BERGEN

Accreditation Molecular diagnosis of porphyria (CPOX, PPOX, FECH, HMBS and UROD genes)
Haukeland University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SWEDEN

Region Stockholm
SOLNA

Accreditation Molecular diagnosis of acute hepatic porphyria (PPOX gene)
Karolinska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SWEDEN

Region Stockholm
SOLNA

Accreditation Diagnosis of porphyria cutanea tarda (UROD gene)
Karolinska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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SWEDEN

Region Stockholm
SOLNA

Accreditation Diagnosis of Congenital erythropoietic porphyria (UROS gene)
Karolinska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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SWEDEN

Region Stockholm
SOLNA

Accreditation Molecular diagnosis of erythropoietic protoporphyria
Karolinska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Brandenburg
COTTBUS

Accreditation Diagnosis of porphyria
Carl-Thiem-Klinikum Cottbus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWEDEN

Region Stockholm
SOLNA

Accreditation Diagnosis of acute intermittent porphyria (HMBS gene)
Karolinska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Erythropoietic Protoporphyria (Analyte: Ferrochelatase)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Hereditary Coproporphyria (Analyte: Coproporphyrinogen Oxidase)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Acute Intermittent Porphyria -AIP (Analyte: Porphobilinogen deaminase)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Variegata Porphyria (Analyte: Protoporphyrinogen oxidase)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Porphyria of Doss (Analyte: 5-Aminolaevulinic acid)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Porphyria cutanea tarda (Analyte: Uroporphyrinogen Decarboxylase)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Congenital Erythropoietic Porphyria (Analyte: Uroporphyrinogen III Synthase)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Biochemical diagnosis of Porphyria of Doss (Analyte: 5-Aminolaevulinic acid)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Hampshire
SOUTHAMPTON

Accreditation Biochemical diagnosis of Acute Intermittent Porphyria - AIP (Analyte: Porphobilinogen & porphyrins)
Southampton General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Avon
BRISTOL

Accreditation Biochemical diagnosis of Acute Intermittent Porphyria - AIP (Analyte: Porphobilinogen & porphyrins)
Bristol Royal Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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PORTUGAL

NORTE
PORTO

Accreditation Molecular diagnosis of X-linked sideroblastic anemia (ALAS2 gene): analysis of the entire coding region
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of porphyria
LMU Klinikum der Universität München - Campus Großhadern
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Biochemical diagnosis of ALAD Porphyria (delta-Aminolevulinate Dehydratase activity)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWEDEN

Region Stockholm
SOLNA

Accreditation Biochemical and molecular diagnosis of hereditary coproporphyria (analyte, CPOX gene sequencing and MLPA)
Karolinska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay
Technique(s) : MLPA based techniques

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CANADA

Ontario
LONDON

Accreditation Molecular Diagnosis of Genetic Hyperferritinemia NGS Panel (15 genes)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

CAMPANIA
NAPOLI

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
CEINGE - Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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DENMARK

Fyn
ODENSE

Molecular diagnosis of porphyria
Odense University hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of cholestasis, progressive familial intrahepatic, type 3 (ABCB4 gene)
Ospedale Maggiore Policlinico - Clinica Mangiagalli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of acute intermittent porphyria (HMBS gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

CENTRE-VAL DE LOIRE
TOURS

Diagnosis of cholestasis and cholelithiasis (ABCB4 and ABCB11 genes: exons and flanking intronic regions sequencing)
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of acute intermittent porphyria (HMBS gene)
Zotz|Klimas Standort Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
BARCELONA

Diagnosis of porphyria (HMBS, UROD, FECH, PPOX, CPOX, UROS genes)
Hospital Clínic de Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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ITALY

LAZIO
ROMA

Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Postnatal molecular diagnosis of porphyria cutanea tarda (UROD gene)
IRCCS Istituto Dermatologico San Gallicano
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LAZIO
ROMA

Postnatal molecular diagnosis of erythropoietic protoporphyria (FECH gene)
IRCCS Istituto Dermatologico San Gallicano
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LOMBARDIA
MONZA

Molecular diagnosis of Crigler-Najjar syndrome, type I and II (UGT1A1 gene)
ASST Monza - Ospedale San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Postnatal molecular diagnosis of porphyria acute intermittent (HMBS gene)
IRCCS Istituto Dermatologico San Gallicano
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LAZIO
ROMA

Postnatal molecular diagnosis of hereditary coproporphyria (CPOX gene)
IRCCS Istituto Dermatologico San Gallicano
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LAZIO
ROMA

Postnatal molecular diagnosis of porphyria variegata (PPOX gene)
IRCCS Istituto Dermatologico San Gallicano
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of acute intermittent porphyria (HMBS gene)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of hereditary coproporphyria (CPOX gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Andalucía
MÁLAGA

Diagnosis of progressive familial intrahepatic cholestasis type 1 (ATP8B1 gene)
Health in Code. Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Andalucía
MÁLAGA

Diagnosis of acute intermittent porphyria (HMBS gene)
Health in Code. Málaga
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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POLAND

Poznan
POZNAN

Molecular diagnosis of porphyria cutanea tarda (UROD gene)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Andalucía
MÁLAGA

Diagnosis of porphyria cutanea tarda (UROD gene)
Health in Code. Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Castilla - León
SALAMANCA

Diagnosis of Crigler-Najjar syndrome types 1 and 2 (UGT1A1 gene)
Innovagenomics, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hereditary coproporphyria (CPOX gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of progressive familial intrahepatic cholestasis (ATP8B1, ABCB4, ABCB11, TJP2 genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of congenital erythropoietic porphyria (UROS gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Andalucía
MÁLAGA

Diagnosis of hereditary coproporphyria (CPOX gene)
Health in Code. Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Andalucía
MÁLAGA

Diagnosis of porphyria variegata (PPOX gene)
Health in Code. Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of porphyria due to ALA dehydratase deficiency (ALAD gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
ULM

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Humangenetik Ulm GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LOMBARDIA
MILANO

Diagnosis of porphyria due to ALA dehydratase deficiency (ALAD gene)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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ITALY

LOMBARDIA
MILANO

Diagnosis of acute intermittent porphyria (HMBS gene)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : Sanger sequencing, MLPA based techniques

More information
ITALY

LOMBARDIA
MILANO

Diagnosis of congenital erythropoietic porphyria (UROS gene)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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ITALY

LOMBARDIA
MILANO

Diagnosis of porphyria cutanea tarda (UROD gene)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

More information
ITALY

LOMBARDIA
MILANO

Diagnosis of hereditary coproporphyria (CPOX gene)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

More information
ITALY

LOMBARDIA
MILANO

Diagnosis of porphyria variegata (PPOX gene)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

More information
ITALY

LOMBARDIA
MILANO

Diagnosis of erythropoietic protoporphyria (FECH and ALAS2 genes)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

More information
ITALY

LOMBARDIA
MILANO

Diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
ITALY

LOMBARDIA
MILANO

Diagnosis of GATA1 related diseases
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Somatic genetics, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Sachsen
DRESDEN

Diagnosis of Porphyria (CPOX, HMBS, PPOX, UROD genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

CAMPANIA
NAPOLI

Diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
CEINGE - Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of benign recurrent intrahepatic cholestasis type 1 (ATP8B1 gene)
Health in Code. Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of acute intermittent porphyria (HMBS gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

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SPAIN

La Rioja
LOGROÑO

Diagnosis of acute intermittent porphyria (HMBS gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of intrahepatic cholestasis (ABCB11, ATP8B1 genes)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
TERRASSA

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

More information
SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of hereditary coproporphyria (CPOX gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

More information
SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

More information
SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of acute intermittent porphyria (HMBS gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of porphyria due to ALA dehydratase deficiency (ALAD gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of familial porphyria cutanea tarda (UROD gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of porphyria variegata (PPOX gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of erythropoietic protoporphyria (FECH, ALAS2 genes)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of autosomal erythropoietic protoporphyria (FECH gene)
Health in Code. Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, MLPA based techniques

More information
GERMANY

Sachsen
DRESDEN

Diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Sachsen
DRESDEN

Diagnosis of erythropoietic protoporphyria (ALAS2 gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Cataluña
BARCELONA

Diagnosis of acute intermittent porphyria (HMBS gene)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Andalucía
MÁLAGA

Diagnosis of progressive familial intrahepatic cholestasis type 3 (ABCB4 gene)
Health in Code. Málaga
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

More information
SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Rotor syndrome (SLCO1B1, SLCO1B3 genes)
Health in Code. Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
GERMANY

Sachsen
DRESDEN

Diagnosis of benign recurrent intrahepatic cholestasis type 1 (ABCB11, ATP8B1 genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Sachsen
DRESDEN

Diagnosis of progressive familial intrahepatic cholestasis type 1 (ATP8B1, ABCB11 and ABCB4 genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of progressive familial intrahepatic cholestasis type 2 (sequence analysis of the entire coding region of TJP2 gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

More information
ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of hereditary coproporphyria (sequence analysis of the entire coding region of CPOX gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

More information
ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of porphyria (sequence analysis of the entire coding region of HMBS, UROD, ALAD, UROS, PPOX, ALAS2, FECH genes)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of acute intermittent porphyria (HMBS gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of familial porphyria cutanea tarda (UROD gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of porphyria variegata (PPOX gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of autosomal erythropoietic protoporphyria (FECH gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
ITALY

LAZIO
ROMA

Postnatal molecular diagnosis of hepatoerythropoietic porphyria (UROD gene)
IRCCS Istituto Dermatologico San Gallicano
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
ITALY

LAZIO
ROMA

Postnatal molecular diagnosis of X-linked erythropoietic protoporphyria (ALAS2 gene)
IRCCS Istituto Dermatologico San Gallicano
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of benign recurrent intrahepatic cholestasis type 2 (ABCB11 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of progressive familial intrahepatic cholestasis type 1 (ATP8B1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of progressive familial intrahepatic cholestasis type 3 (ABCB4 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of hereditary coproporphyria (CPOX gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Rotor syndrome (SLCO1B1, SLCO1B3 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of acute intermittent porphyria (HMBS gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial porphyria cutanea tarda (UROD gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of porphyria due to ALA dehydratase deficiency (ALAD gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of porphyria variegata (PPOX gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of erythropoietic protoporphyria (FECH, ALAS2 genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of sideroblastic anemia (gene panel)
BLOODGENETICS S.L
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of hepatic diseases (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of erythropoietic porphyria (gene panel)
BLOODGENETICS S.L
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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GERMANY

Hamburg
HAMBURG

Diagnosis of Porphyria (CPOX, HMBS, PPOX, UROD genes)
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, and ATP8B1 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of hereditary kidney disease (NGS screening panel: 411 Gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

VENETO
PADOVA

Molecular diagnosis of hereditary liver diseases [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of recessive diseases (panel, qCarrier Plus)
qGenomics
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

NORMANDIE
ROUEN

Diagnosis of hydrops fetalis (Panel)
CHU de Rouen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of familial intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

La Rioja
LOGROÑO

Diagnosis of familial intrahepatic cholestasis (panel)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of Rett syndrome and epilepsy (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of mitochondrial disorders due to nuclear DNA anomalies (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of intellectual disability (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of intrahepatic cholestasis (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of constitutional sideroblastic anemia (panel)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of rare inborn errors of metabolism (Whole exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

ILE-DE-FRANCE
COLOMBES

Diagnosis of autosomal or X linked erythropoietic protoporphyrias
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

GRAND-EST
STRASBOURG

Diagnosis of acute hepatic porphyria (ALA by HPLC and PBG by colorimetry)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Diagnosis of porphyria (dosage of uroporphyrin, coproporphyrin, delta-aminolevulinic acid and porphobilinogen in urin)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Diagnosis of Crigler-Najjar syndrome (enzyme assay / UGT1A1 gene)
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis X-linked sideroblastic anemia (ALAS2 gene)
Centro Hospitalar e Universitário de Coimbra, EPE - H. Pediátrico e H. Covões
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of Crigler-Najjar syndrome, types 1 and 2 (UGT1A1 gene)
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

SICILIA
PALERMO

Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Azienda Ospedaliera Ospedali Riuniti "Villa Sofia-Cervello" - Presidio Cervello
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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IRELAND

County Dublin
DUBLIN

Biochemical diagnosis of Porphyrias (Biochemical diagnosis of the Porphyria's (Analysis of intermediates of Haem biosynthesis in urine, faeces and blood using ion-exchange chromatography, fluorimey, haematofluorimetry, plasma emission scanning and HPLC with fluorescent detection)
St James's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Other
Objective(s) : Analyte / Enzyme assay

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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HUNGARY

Dél-Alföld
SZEGED

Biochemical diagnosis of porphyria : dosage of urine, blood and fecal porphyria and its urine precursors (ALA, PBG)
University of Szeged - Dpt of Dermatology and Allergology
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Biochemical diagnosis of chronic hepatic porphyria
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NORWAY

Østlandet
OSLO

Molecular diagnosis of intrahepatic cholestasis (ABCB4 gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of the Porphyria's (Analysis of intermediates of Haem biosynthesis in urine, faeces and blood using ion-exchange chromatography, fluorimetry and HPLC)
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Baden-Württemberg
HEIDELBERG

Diagnosis of intrahepatic cholestasis (bile acids in urine)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Biochemical diagnosis of congenital erythropoietic porphyria
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Biochemical and molecular diagnosis of porphyria of Doss (ALAD gene)
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of porphyria variegata (PPOX gene)
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of hereditary coproporphyria (CPOX gene)
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of porphyria cutanea tarda (UROD gene)
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of porphyria acute intermittent (HMBS gene)
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of hereditary coproporphyria (CPOX gene)
Vseobecna fakultni nemocnice a 1. lekarska fakulta UK
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of acute intermittent porphyria (HMBS gene)
Vseobecna fakultni nemocnice a 1. lekarska fakulta UK
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of porphyria variegata (PPOX gene)
Vseobecna fakultni nemocnice a 1. lekarska fakulta UK
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of erythropoietic protoporphyria (FECH gene)
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of congenital porphyria (UROS gene)
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

ILE-DE-FRANCE
COLOMBES

Diagnosis of porphyria of Doss
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

ILE-DE-FRANCE
COLOMBES

Diagnosis of congenital erythropoietic porphyria
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

ILE-DE-FRANCE
COLOMBES

Diagnosis of porphyria cutanea tarda hereditary and sporadic
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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PORTUGAL

SUL
LISBOA

Molecular diagnosis of acute intermittent porphyria (HMBS gene): Analysis of the entire coding region - sequence analysis
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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PORTUGAL

SUL
LISBOA

Molecular diagnosis of porphyria variegata (PPOX gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

SUL
LISBOA

Molecular diagnosis of hereditary coproporphyria (CPOX gene): Analysis of the entire coding region - Sequence analysis
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of progressive familial intrahepatic cholestasis type 3 (ABCB4 gene: sequence analysis of exons 5-30)
Vseobecna fakultni nemocnice a 1. lekarska fakulta UK
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Biochemical diagnosis of porphyria (dosage of urine, blood and fecal porphyria and its urine precursors)
FIAGOP Onlus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Biochemical diagnosis of porphyria
Universitätsklinikum Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay, Protein expression
Technique(s) : Immunohistochemistry

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GERMANY

Sachsen
CHEMNITZ

Diagnosis of porphyria
Klinikum Chemnitz gGmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

West Yorkshire
LEEDS

Biochemical diagnosis of the Porphyrias
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater Manchester
SALFORD

Biochemical diagnosis of the Porphyrias
Salford Royal NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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IRELAND

County Dublin
DUBLIN

Biochemical and molecular diagnosis of Acute intermittent porphyria (HMBS gene)
St James's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Analyte / Enzyme assay
Technique(s) : PCR based techniques

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IRELAND

County Dublin
DUBLIN

Biochemical and molecular diagnosis of Porphyria variegata (PPOX gene)
St James's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

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IRELAND

County Dublin
DUBLIN

Biochemical and molecular diagnosis of Hereditary coproporphyria (CPOX gene)
St James's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

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IRELAND

County Dublin
DUBLIN

Biochemical and molecular diagnosis of Erythropoietic protoporphyria (FECH gene)
St James's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
COLOMBES

Diagnosis of acute intermittent porphyria
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

ILE-DE-FRANCE
COLOMBES

Diagnosis of porphyria variegata
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

ILE-DE-FRANCE
COLOMBES

Diagnosis of hereditary coproporphyria
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
BARCELONA

Diagnosis of porphyria (porphyrins in urine/faeces/blood; enzime assay)
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

UMBRIA
PERUGIA

Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Università degli Studi di Perugia - Ospedale S. Maria della Misericordia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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POLAND

Warszawa
WARSAW

Biochemical diagnosis of porphyria (urine, blood and fecal HPLC) and its urine precursors (ALA, PBG)
IHIT Instytut Hematologii I Transfuzjologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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POLAND

Warszawa
WARSAW

Molecular diagnosis of acute hepatic porphyria (HMBS and PPOX genes)
IHIT Instytut Hematologii I Transfuzjologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

GRAND-EST
STRASBOURG

Diagnosis of chronic hepatic porphyria
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

GRAND-EST
STRASBOURG

Diagnosis of congenital erythropoietic porphyria
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Québec
MONTRÉAL

Molecular diagnosis of Hereditary North American Indian childhood cirrhosis (R565W mutation in CIRH1A gene by PCR & enzyme restriction)
Centre hospitalier universitaire Sainte-Justine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Porphyrias (ALAS2, ALAD, CPOX, GATA1, HFE, HMBS, PPOX, and UROS genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

More information
PORTUGAL

NORTE
PORTO

Diagnosis of acute intermittent porphyria (HMBS gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of hereditary coproporphyria (CPOX gene: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of porphyria variegata (PPOX gene: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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PORTUGAL

NORTE
PORTO

Diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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PORTUGAL

NORTE
PORTO

Diagnosis of familial intrahepatic cholestasis (ABCB4, ATP8B1 and ABCB11 genes)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
COLOMBES

Diagnosis of hepatoerythropoietic porphyria (UROD activity in red blood cells)
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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PORTUGAL

NORTE
PORTO

Diagnosis of congenital erythropoietic porphyriay (UROS gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of intrahepatic cholestasis (ATP8B1, ABCB11, and ABCB4 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Dubin-Johnson syndrome (ABCC2 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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PORTUGAL

NORTE
PORTO

Diagnosis of acute porphyrias (CPOX, PPOX, HMBS genes)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Aragón
ZARAGOZA

Diagnosis of familial porphyria cutanea tarda (UROD gene)
Centro de Investigación Biomédica de Aragón (CIBA)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

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SPAIN

Cataluña
BARCELONA

Diagnosis of rare inborn errors of metabolism (panel)
Hospital Universitari Vall d'Hebron
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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PORTUGAL

NORTE
PORTO

Diagnosis of Crigler-Najjar syndrome, types 1 and 2 (UGT1A1 gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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