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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICĘTRE

Accreditation
Molecular diagnosis of Pearson syndrome (mtDNA)
GHU Paris-Sud - Hôpital de Bicętre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of Pearson syndrome (analysis of mitochondrial DNA deletions)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of enzymatic deficiency of respiratory chain on muscular biopsy
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of myopathies (NGS panel, 60 genes)
Universitätsklinikum Aachen
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
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Pearson syndrome (mitochondrial deletions)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Molecular diagnosis of Pearson Syndrome (mtDNA)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Mitochondrial disorders
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Pearson syndrome (mtDNA deletion)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
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

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Mitochondrial diseases (common mtDNA point mutations, mtDNA rearrangements and depletion)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of X-linked sideroblastic anemia (ALAS2 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Combined Oxidative Phosphorylation Deficiency (C10ORF2, GFM1, MRPS16, PUS1 and C12ORF65 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Thiamine-Responsive Megaloblastic Anemia (SLC19A2 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

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of mitochondrial myopathy and sideroblastic anemia 1 and 2 (PUS1, YARS2 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Autosomal Recessive Sideroblastic Anemia (SLC25A38 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of X-linked Sideroblastic Anemia with Ataxia (ABCB7 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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of mitochondrial myopathy and sideroblastic anemia (PUS1, YARS2 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of myopathy /muscular dystrophy (NGS screening panel, 228 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

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Pearson Marrow-Pancreas Syndrome (Mitochondrial genome analysis: targeted mutation analysis / Testing for known mutations in family members)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of rare ataxia (NGS screening panel, 98 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, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Biochemical diagnosis of Fe/S cluster protein biosynthesis deficiency (lactate et glycin assay)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of adult-onset autosomal recessive sideroblastic anemia (GLRX5 gene: sequencing)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of autosomal recessive sideroblastic anemia (SLC25A38 gene)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of X-linked sideroblastic anemia with ataxia (ABCB7 gene)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of hereditary ataxia (NGS panel, 103 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Myopathy, Lactic Acidosis and Sideroblastic Anemia type 1 and 2 (PUS1 and YARS2 gene)
Radboudumc - Radboud universitair medisch centrum
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

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of ataxia, spastic paraplegia and related neurodegenerative diseases (Panel)
IURC - Institut Universitaire de Recherche Clinique
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
LE KREMLIN-BICĘTRE

Accreditation
Diagnosis of mitochondrial diseases (Panel)
GHU Paris-Sud - Hôpital de Bicętre
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 iron-sulfur proteins disorders (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of thiamine metabolism disorders (Panel)
CHU Paris - Hôpital Robert Debré
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

FRANCE

NORMANDIE
CAEN

Accreditation
Diagnosis of mitochondrial oxidative phosphorylation disorders due to nuclear DNA anomalies (Panel)
CHU de Caen - Hôpital de la Côte de Nacre
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

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
Pränatalmedizin München
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of mitochondrial myopathy and sideroblastic anemia (PUS1 gene)
Pränatalmedizin München
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

FRANCE

NORMANDIE
CAEN

Accreditation
Molecular diagnosis of Pearson syndrome (mtDNA)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluńa
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

SWITZERLAND

Suisse Romande
GENČVE

Accreditation
Diagnosis of monogenic Diabetes (Panel)
Hôpitaux Universitaires de Genčve HUG
Purpose(s) : 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

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of neurogenetic and neuromuscular diseases (NGS panel - 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular 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

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of megaloblastic anemia and related disorders (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)

UNITED KINGDOM

Devon
EXETER

Accreditation
Molecular diagnosis of Thiamine-responsive megaloblastic anaemia - TRMA (SLC19A2 gene)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Pearson Marrow-Pancreas Syndrome (Mitochondrial genome- targetted mutation analysis)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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)

CANADA

Ontario
HAMILTON

Accreditation
Molecular Diagnosis of Adult Mitochondrial Disease NGS Nuclear Gene Panel (68 genes)
McMaster University Medical 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)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hereditary immune deficiencies (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
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)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Myopathy, Lactic Acidosis and Sideroblastic Anemia type 2 (YARS2 gene)
VUmc - VU medisch centrum
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

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Molecular diagnosis of Pearson syndrome (large-scale deletions of mitochondrial DNA)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of Pearson syndrome (mtDNA)
CHU de Lyon HCL - GH Est
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

PORTUGAL

CENTRO
COIMBRA

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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Pearson syndrome (various deletions of mtDNA)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of Pearson syndrome : search for mitochondrial DNA deletions
CHU Paris-GH La Pitié Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

HUNGARY

Dél-Dunántúl
PECS

Molecular diagnosis of X-linked sideroblastic anemia with ataxia (ABCB7 gene)
Clinical Center - University of Pécs
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis of Sideroblastic anemia (GLRX5 gene)
Hosp. Pediátrico e Hosp. Covőes - Centro Hospitalar e Universitário de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis of sideroblastic anemia with ataxia (ABCB7 gene)
Hosp. Pediátrico e Hosp. Covőes - Centro Hospitalar e Universitário de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular diagnosis of Pearson syndrome (mtDNA)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

'Molecular diagnosis of sideroblastic anemia : X-linked forms (ALAS2 gene) ; autosomal recessive forms (GLRX5 and SLC25A38 genes) ; SIFD syndrome (TRNT1 gene) ; Thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)'
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis of sideroblastic anemia (SLC25A38 gene): sequencing of the entire coding region.
Hosp. Pediátrico e Hosp. Covőes - Centro Hospitalar e Universitário de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
Helmholtz Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of autosomal recessive pyridoxine-refractory sideroblastic anemia (SLC25A38, GLRX5 genes)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of X-linked sideroblastic anemia with ataxia (ABCB7 gene)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of X-linked sideroblastic anemia - ataxia (ABCB7 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of X-linked sideroblastic anemia (ALAS2 gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Pearson syndrome (DNA mit / MLPA)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Thiamine-responsive megaloblastic anemia syndrome (SLC19A2 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

FRANCE

HAUTS-DE-FRANCE
LILLE

Molecular diagnosis of Pearson syndrome (mtDNA)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of severe congenital hypochromic anemia with ringed sideroblasts (STEAP3 gene)
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Sachsen
DRESDEN

Molecular 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

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of autosomal recessive sideroblastic anemia (SLC25A38 gene)
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
PATERNA

Diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
IMEGEN - Instituto de Medicina Genómica
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 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)

FRANCE

HAUTS-DE-FRANCE
LILLE

Diagnosis of recessive ataxia (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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

Diagnosis of mitochondrial diseases (Panel)
CHU Paris-GH La Pitié Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
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

OCCITANIE
MONTPELLIER

Diagnosis of sideroblastic anemia (Panel)
CHU de Montpellier - Hôpital Saint-Eloi
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)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluńa
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)

SPAIN

Cataluńa
ESPLUGUES DE LLOBREGAT

Diagnosis of constitutional anemia due to iron metabolism disorder (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)

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

SPAIN

Madrid
MADRID

Diagnosis of syndromic genetic deafness (panel)
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
MADRID

Diagnosis of non-dystrophic myopathy (panel)
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Biochemical study of mitochondrial phrosphorilative oxydation deficiencies : enzymatic and polarographic studies - Mitochondrial haplotypes determination
Université Bordeaux 2 - Victor Ségalen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NORMANDIE
ROUEN

Molecular diagnosis of X-linked sideroblastic anemia with ataxia (ABCB7 gene)
CHU de Rouen - Hôpital Charles Nicolle
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Pearson syndrome (mtDNA)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Biochemical diagnosis of respiratory chain defects and mitochondrial ATP synthesis
IRCCS Ospedale Pediatrico Bambino Gesů
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GREECE

ATTIKI
ATHENS

Biochemical diagnosis of Pearson syndrome
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of Pearson syndrome (mtDNA deletion screening)
Klinikum Schwabing, Städt. Klinikum GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (Rogers syndrome, SLC19A2 gene)
Klinikum Schwabing, Städt. Klinikum GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Diagnosis of myopathy with lactic acidosis and sideroblastic anemia in magnetic resonance
Université de médecine Aix-Marseille Université
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Imaging

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of myopathy with sideroblastic anemia by neuro-muscular biopsy
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Rheinland-Pfalz
LUDWIGSHAFEN

Molecular diagnosis of Pearson syndrome
Klinikum der Stadt Ludwigshafen gGmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Rheinland-Pfalz
LUDWIGSHAFEN

Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
Klinikum der Stadt Ludwigshafen gGmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular diagnosis of Pearson syndrome
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of mitochondrial diseases (mtDNA/POLG/Twinkle)
Karolinska Universitetssjukhuset - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVENIA

SLOVENIA
LJUBLJANA

Molecular diagnosis of Thiamine-responsive megaloblastic anaemia syndrome (SLC19A2 gene)
University Medical Centre Ljubljana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of Pearson syndrome (mtDNA)
Charles University - First faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
ULM

Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluńa
BARCELONA

Diagnosis of Pearson syndrome
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of constitutional deficiency anemia (gene panel)
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)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of X-linked sideroblastic anemia (ALAS2 gene)
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

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of combined oxidative phosphorylation defect (mtDNA and AIFM, PUS1 genes)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluńa
BARCELONA

Molecular diagnosis of Pearson syndrome (mtDNA)
Vall d'Hebron Institut de Recerca VHIR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Molecular diagnosis of Pearson syndrome (single large-scale mtDNA deletion, Southern-Blot)
Instituto de Investigación Hospital 12 de Octubre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Autosomal recessive sideroblastic anaemia (SLC25A38 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)

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of X-linked sideroblastic anemia - ataxia (ABCB7 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)

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Constitutional sideroblastic anemia (SLC25A38 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)

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)

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Autosomal recessive pyridoxine-refractory sideroblastic anemia (GLRX5 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)

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Mitochondrial myopathy and sideroblastic anemia (PUS1 and YARS2 genes)
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Pearson syndrome
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Thiamine-responsive megaloblastic anaemia - TRMA (SLC19A2 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)

SPAIN

Cataluńa
BARCELONA

Diagnosis of Pearson syndrome
Hospital Clínic de Barcelona
Purpose(s) : Risk assessment
Specialty(ies) : Biochemical genetics, Pathology
Objective(s) : Analyte / Enzyme assay