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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of Fabry disease (alpha-galactosidase A, lyso-Gb3, GLA gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Fabry disease (GLA gene)
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
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

ITALY

TOSCANA
FIRENZE

Accreditation
Molecular diagnosis of Fabry disease (GLA gene)
Azienda Ospedaliero Universitaria Careggi
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), MLPA based techniques

SPAIN

Cataluña
BARCELONA

Accreditation
Diagnosis of Fabry disease (GLA gene)
Hospital Clínic de Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Diagnosis of Fabry disease : alpha galactosidase enzyme assay
CHU de Nice - Hôpital Pasteur
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of Fabry disease (GLA gene)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Diagnosis of Fabry disease (GLA gene)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
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

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of Fabry disease (GLA gene)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Fabry disease (GLA gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
WEIßWASSER

Accreditation
Diagnosis of Fabry disease (GLA gene)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of hypertrophic and dilated cardiomyopathies (gene panel)
Institut de Pathologie et de Génétique
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)

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of Fabry disease (GLA gene)
Institut de Pathologie et de Génétique
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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Fabry Disease (GLA gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Hypertrophic Cardiomyopathy (ACTC1, ACTN2, CALR3, FHL1, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, NEXN, PRKAG2, TCAP, TNNC1, TNNT2, TNNI3, TPM1 and TTN 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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Fabry Disease (GLA 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

GERMANY

Bayern
NEU-ULM

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

GERMANY

Baden-Württemberg
FREIBURG

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

FRANCE

OCCITANIE
TOULOUSE

Accreditation
Diagnosis of Fabry disease
Institut Fédératif de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation
Diagnosis of Fabry disease (GLA gene)
CHU de Bordeaux-GH Pellegrin
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
DORTMUND

Accreditation
Diagnosis of Fabry disease (GLA gene: sequencing / MLPA)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Biochemical diagnosis of Fabry disease (Analyte: Alpha-Galactosidase A)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Biochemical diagnosis of Lysosomal Storage disorders (Analyte: Chitotriosidase)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Fabry disease (GLA gene)
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) : Sanger sequencing, MLPA based techniques

FRANCE

GRAND-EST
REIMS

Accreditation
Diagnosis of Fabry disease (GLA gene)
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of Fabry disease (GLA gene: sequencing / MLPA)
Diagenom GmbH
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

GERMANY

Hamburg
HAMBURG

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

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Biochemical marker for Lysosomal Storage Diseases (Analyte: Chitotriosidase)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Biochemical diagnosis of Fabry Disease (Analyte: alpha-Galactosidase)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Molecular diagnosis of Fabry Disease (GLA gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Accreditation
Molecular diagnosis of Fabry disease (GLA gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of Fabry disease (GLA gene)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Diagnosis of Fabry disease (GLA gene)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of Fabry disease (GLA 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

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular diagnosis of Fabry disease (Gene: GLA, mutations/sequencing)
St Mary's Hospital
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

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Diagnosis of Fabry disease (GLA 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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of Fabry disease (GLA gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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)

GERMANY

Hamburg
HAMBURG

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

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Diagnosis of Fabry disease (GLA 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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Fabry Disease (by MLPA, mRNA analysis, DNA sequencing GLA)
The Hospital for Sick Children and University of Toronto
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, MLPA based techniques

GERMANY

Bayern
MARTINSRIED/PLANEGG

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

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Biochemical and molecular diagnosis of Fabry disease (GLA gene)
Universitätsspital Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Diagnosis of Fabry disease (GLA 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

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Fabry Disease (GLA 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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Cardiomyopathy (gene panel)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Diagnosis of Fabry disease (GLA 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

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Diagnosis of Fabry disease (GLA gene)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Cardiomyopathy (gene panel; CAR01v16.1)
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)

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of Fabry disease (GLA gene)
UKE - Universitätsklinikum Hamburg-Eppendorf
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Fabry disease (GLA 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

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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of Fabry disease (GLA gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT

Accreditation
Diagnosis of Fabry disease (GLA gene)
AP-HP.Université Paris Saclay - Hôpital Ambroise Paré
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) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Fabry disease (GLA gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Fabry disease (GLA 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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Accreditation
Diagnosis of cardiomyopathy (Panel)
Hôpitaux Universitaires Henri Mondor
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, PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of cardiomyopathy (Panel)
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
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 cardiomyopathies (Panel)
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of cardiomyopathies (Panel)
CHU de Lyon HCL - GH Est
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, PCR based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Fabry disease (GLA gene)
Universitätsklinikum Aachen
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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Fabry Disease (Analyte: Gb3/CTH and lysoGb3/lysoCTH)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Nordrhein-Westfalen
AACHEN

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Cardiomyopathy (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of metabolic diseases (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)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of peroxisomal and lysosomal diseases (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)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Lymphedema (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of White Matter Disorders (gene panel)
Amsterdam UMC, locatie VUmc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of rare heart diseases (NGS screening panel, 157 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)

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Diagnosis of Fabry disease (GLA gene)
Institut für Humangenetik am Universitätsklinikum Heidelberg
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

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)

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of Lysosomal diseases (NGS screening panel: 38 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)

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of hereditary renal disease (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of lysosomal disease (Panel)
CHU de Lyon HCL - GH Est
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, PCR based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Fabry Disease (GLA 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

Sachsen
DRESDEN

Accreditation
Diagnosis of Fabry disease (GLA gene)
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), Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of lysosomal diseases (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation
Diagnosis of ischemic stroke in young adults [panel of 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

AUSTRIA

WIEN
WIEN

Accreditation
Diagnosis of Fabry disease (alpha-galactosidase, Lyso-GL3 (Lyso-Gb3), GLA gene)
ARCHIMED Life Science GmbH
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of Fabry disease
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular diagnosis of Fabry disease by sequencing of the entire coding region of gene / copy number analysis (GLA gene)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

UNITED KINGDOM

Strathclyde
GLASGOW

Accreditation
Biochemical diagnosis of Fabry's disease (Analyte: Alpha-galactosidase A)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Biochemical diagnosis of Fabry disease (Analyte: alpha-galactosidase)
Bristol Royal Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ISRAEL

ISRAEL
JERUSALEM

Accreditation
Molecular and Biochemical diagnosis of Fabry (GLA, a-Galactosidase analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Biochemical diagnosis of Fabry disease (alpha-galactosidase A)
Ghent University Hospital - UZ Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Fabry Disease (Analyte: alpha-D-galactosidase, Ceramidetrihexoside and Lysoceramidetrihexoside)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWEDEN

Region Stockholm
STOCKHOLM

Accreditation
Biochemical diagnosis of Fabry disease (Alpha-galactosidase activity assay)
Karolinska Universitetssjukhuset - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FINLAND

Finland
KUOPIO

Accreditation
Molecular diagnosis of Fabry disease (GLA gene)
University of Eastern Finland
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Biochemical diagnosis of Fabry disease (Analyte: alpha-Galactosidase)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Fabry Disease (alpha-Galactosidase A activity in blood spot)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Nordrhein-Westfalen
BAD OEYNHAUSEN

Accreditation
Diagnosis of Fabry disease (GLA gene: sequencing, MLPA)
Ruhr-Universität Bochum
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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Biochemical diagnosis of Fabry Disease (Analyte: alpha-D-Galactosidase A)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Fabry Disease (GLA gene: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region

SWEDEN

Region Västra Götaland
GÖTEBORG

Accreditation
Biochemical diagnosis of Fabry disease (Alpha-galactosidase activity assay)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWEDEN

Region Västra Götaland
GÖTEBORG

Accreditation
Biochemical monitoring of Fabry disease (Analyte: LysoGb3)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
OTTAWA

Accreditation
Molecular Diagnosis of Familial Hypertrophic Cardiomyopathy - NGS Panel (19 genes)
Children's Hospital of Eastern Ontario
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), MLPA based techniques

GERMANY

Niedersachsen
RONNENBERG

Accreditation
Diagnosis of Fabry disease (alpha-Galaktosidase A enzyme activity)
Screening-Labor Hannover
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LIGURIA
GENOVA

Biochemical diagnosis of Fabry disease
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

TOSCANA
PISA

Diagnosis of Fabry disease (GLA gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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, MLPA based techniques

GERMANY

Niedersachsen
OSNABRÜCK

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

ITALY

TOSCANA
FIRENZE

Biochemical and molecular diagnosis of Fabry disease (GLA gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Diagnosis of Fabry disease (alpha-galoctosidosis A activity)
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NORMANDIE
ROUEN

Diagnosis of Fabry disease (Panel; target gene : GLA)
CHU de Rouen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

PIEMONTE
TORINO

Molecular diagnosis of Fabry disease (GLA gene)
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of Fabry disease (enzyme assay / GLA gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
REINACH

Molecular diagnosis of Fabry disease (Fabry mutations/ sequencing GLA gene)
Diagene Laboratories Inc.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Fabry disease (GLA gene)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Diagnosis of Fabry disease (GLA 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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
BARCELONA

Diagnosis of Fabry disease (GLA gene; SNP array)
DiNA Science
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Baden-Württemberg
ULM

Diagnosis of Fabry disease (GLA gene)
MVZ Humangenetik Ulm GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of Fabry disease (GLA 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

SPAIN

Madrid
MADRID

Diagnosis of Fabry disease
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Galicia
A CORUÑA

Diagnosis of Fabry disease (GLA gene)
Health In Code
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), Sanger sequencing

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of Fabry disease (GLA gene: sequencing)
Praxis für Humangenetik und Prävention
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Diagnosis of Fabry disease (GLA gene: sequencing / MLPA)
Gemeinschaftspraxis für Humangenetik
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

ITALY

LAZIO
ROMA

Biochemical diagnosis of Fabry disease (fluorometric determination of alpha-galactosidase)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Molecular diagnosis of Fabry disease (GLA gene)
Center for Cardiovascular Genetics and Gene Diagnostics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

FRIULI VENEZIA GIULIA
UDINE

Biochemical and molecular diagnosis of Fabry disease (assessment of apha-galactosidase A activity and GLA gene)
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Fabry disease (GLA 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

ITALY

CAMPANIA
NAPOLI

Diagnosis of Fabry disease (GLA gene)
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

POLAND

Warszawa
WARSAW

Molecular diagnosis of Fabry disease (GLA gene: mutations in exons 5 and 7)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
TERRASSA

Diagnosis of Fabry disease (GLA gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Fabry disease (enzyme assay, complete GLA gene sequencing)
Hôpital Necker-Enfants Malades
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

GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of familial hypertrophic cardiomyopathy (NGS screening panel: 69 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Fabry disease (GLA 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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of familial isolated hypertrophic cardiomyopathy (gene panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

País Vasco
BARAKALDO

Diagnosis of Fabry disease
Hospital Universitario Cruces
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

HUNGARY

Közép-Magyarország
DEBRECEN

Molecular diagnosis of Fabry disease (GLA gene)
University of Debrecen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of Fabry disease (GLA gene)
Klinikum Stuttgart - Standort Olgahospital
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, MLPA based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of hypertrophic cardiomyopathy (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of cardiomyopathies (panel)
DNA Data
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 lysosomal disease and purine or pyrimidine disorders of metabolism (panel)
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)

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Fabry disease (GLA gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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

ITALY

VENETO
PADOVA

Molecular diagnosis of familial cardiomyopathy [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)

SPAIN

Madrid
MADRID

Diagnosis of metabolic diseases (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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)

FRANCE

NORMANDIE
ROUEN

Diagnosis of lysosomal diseases (Panel)
CHU de Rouen
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)

GERMANY

Rheinland-Pfalz
MAINZ

Diagnosis of Fabry disease (GLA gene)
Universitätsmedizin Mainz
Purpose(s) : Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of metabolic diseases (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of vasculopathy (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of cardiopathies (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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of rare cardiomyopathies [panel of genes]
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

VENETO
PADOVA

Diagnosis of rare cardiac diseases [panel of 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), Whole Exome Sequencing (WES)

SPAIN

Madrid
CANTOBLANCO

Diagnosis of Fabry disease (GLA gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
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

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Fabry disease (GLA gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of Fabry disease (GLA gene)
Senckenberg Zentrum für Humangenetik
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

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of Fabry disease (GLA gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Fabry disease (Alpha-galactosidase A activity assay)
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LOMBARDIA
MILANO

Biochemical diagnosis of Fabry disease
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Diagnosis of Fabry disease (enzyme assay / GLA 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

ITALY

SARDEGNA
CAGLIARI

Biochemical diagnosis of Fabry disease
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Biochemical and molecular diagnosis of Fabry disease (GLA gene)
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

WIEN
WIEN

Biochemical diagnosis of Fabry disease (activity of alpha-Galactosidase, excretion of Globotriaosylceramide)
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Fabry disease: analysis of the entire coding region and UTR 5'.
Faculdade de Medicina da Universidade do Porto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ITALY

VENETO
VERONA

Biochemical diagnosis of Fabry disease
Centro Airett Ricerca e Innovazione - CARI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Fabry disease (GLA gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

HUNGARY

Közép-Magyarország
DEBRECEN

Molecular diagnosis of Fabry disease (GLA gene)
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ROMANIA

CLUJ
CLUJ

Biochemical diagnosis of Fabry disease
U.M.F. Iuliu Hatieganu Cluj
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NORWAY

Østlandet
OSLO

Molecular diagnosis of Fabry disease (GLA gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BULGARIA

 South-West region
SOFIA

Biochemical diagnosis of sphingolipidoses by enzyme assay
University hospital of Obstetrics and Gynecology
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of Fabry disease by sequencing of GLA gene
Semmelweis University Hospital - 2nd Department of Paediatrics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Rheinland-Pfalz
MAINZ

Diagnosis of Fabry disease (enzyme assay : a-galactosidase)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

PIEMONTE
TORINO

Screening for enzymatic activity in blood spot for Fabry disease
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Diagnosis of Fabry disease (enzyme activity assay)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

PUGLIA
FOGGIA

Molecular and biochemical diagnosis of Fabry disease (GLA gene)
Azienda Ospedaliero Universitaria di Foggia - Ospedali Riuniti
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Niedersachsen
GÖTTINGEN

Diagnosis of Fabry disease (enzyme assay : a-galactosidase)
Universitätsmedizin Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
GARCHES

Diagnosis of Fabry disease (GLA gene)
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Purpose(s) : Post-natal diagnosis
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, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

DENMARK

Hovedstaden
COPENHAGEN

Biochemical diagnosis of Fabry disease (Analyte: Alpha-galactosidase)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CZECH REPUBLIC

Capital City Prague
PRAHA

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

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Biochemical and Molecular diagnosis of Fabry disease (Analyte: alpha-Galactosidase)
Royal Group of Hospitals Belfast
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Fabry disease (GLA gene)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Fabry Disease (Analyte: alpha-Galactosidase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Lothian
EDINBURGH

Biochemical diagnosis of Fabry disease (Analyte: alpha-Galactosidase)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Fabry disease (Analyte: alpha-Galactosidase)
University College London Hospitals, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

VLAAMS BRABANT
LEUVEN

Biochemical diagnosis of Fabry disease (alpha-galactosidase A)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

VLAAMS BRABANT
LEUVEN

Biochemical follow-up of Fabrazyme therapy (Fabrazyme Ab)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

VLAAMS BRABANT
LEUVEN

Biochemical diagnosis of Fabry disease (globotriaosylceramide GL3)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GREECE

ATTIKI
ATHENS

Biochemical diagnosis of Fabry disease (alpha-galactosidase activity assay)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

POLAND

Warszawa
WARSZAWA

Biochemical diagnosis of Fabry disease (Alpha-galactosidase enzyme assay)
Instytut Psychiatrii i Neurologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of Fabry disease (analyte: alpha-galactosidase)
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

SUL
LISBOA

Molecular diagnosis of Fabry disease (GLA 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

SPAIN

Cataluña
BARCELONA

Diagnosis of Fabry disease
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Fabry disease (GLA gene)
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

GRAND-EST
REIMS

'Diagnosis of Fabry disease (enzyme assay; Gb3 analysis by LC/MS/MS)'
CHU de Reims - American Memorial Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Diagnosis of sphingolipidosis (ARSA, GBA, GLA, GLB1, HEXA, HEXB genes)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
BADALONA

Diagnosis of Fabry disease (GLA gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
BARCELONA

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

ITALY

VENETO
PADOVA

Biochemical diagnosis of Fabry disease (measurement of alpha-galactosidase enzymatic activity)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Québec
SHERBROOKE

Biochemical diagnosis of Fabry disease (urinary Gb3 analysis by LC/MS/MS)
CIUSSS de l'Estrie - CHUS Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

MARCHE
ANCONA

Biochemical diagnosis of Fabry disease (alpha-galattosidase assay in leukocytes)
Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Diagnosis of Fabry disease (GLA 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

AUSTRIA

STEIERMARK
GRAZ

Biochemical (analysis of alpha-galactosidase, lyso-Gb3) and molecular (GLA gene) diagnosis of Fabry disease
Medizinische Universität Graz
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

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of Fabry disease (sequencing analysis of 7 exons of GLA gene)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Biochemical diagnosis of Fabry disease (enzymatic activity of alpha-galactosidase in leukocytes or in serum)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of Fabry disease (enzymatic dosage)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
TORONTO

Biochemical Diagnosis of Fabry Disease (alpha-galactosidase fibroblasts/white blood cells)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
TORONTO

Biochemical Analysis of Glycolipids (urine, TLC)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of lysosomal diseases (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

PIEMONTE
TORINO

Diagnosis of Anderson-Fabry disease (determined by Analyte_Enzyme assay - enzymatic activity of alfa-galactosidase - and tandem Mass Spectrometry coupled with Liquid Chromatography)
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Biochemical genetics, Other
Objective(s) : Analyte / Enzyme assay

SPAIN

Aragón
ZARAGOZA

Diagnosis of Fabry disease (GLA gene)
Hospital Universitario Miguel Servet
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Aragón
ZARAGOZA

Diagnosis of lysosomal disease (panel)
Hospital Universitario Miguel Servet
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

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