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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

GERMANY

Baden-Württemberg
KARLSRUHE

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

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

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

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

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

GERMANY

Bayern
MARTINSRIED

Accreditation
Diagnosis of Porphyria (NGS screening panel, 8 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
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

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)

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

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Accreditation
Diagnosis of constitutional hemolytic anemia (Panel)
CHU Henri Mondor
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)

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Porphyria (ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS genes)
Pränatalmedizin München
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

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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hereditary iron overload disease (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)

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)

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)

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

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

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

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

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

SPAIN

Andalucía
MÁLAGA

Diagnosis of hereditary coproporphyria (CPOX gene)
IMEGEN - Delegación 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

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

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

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

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

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)

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

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)

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

CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of hereditary coproporphyria (CPOX gene)
Charles University - First faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

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

NETHERLANDS

Zuid-Holland
ROTTERDAM

Molecular diagnosis of Acute Hepatic Porphyria (CPOX, HMBS and PPOX gene)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
ROTTERDAM

Molecular diagnosis of Hereditary Coproporphyria (CPOX gene)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

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

SWEDEN

Region Stockholm
STOCKHOLM

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