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FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Molecular diagnosis of glycogen storage disease due to hepatic glycogen synthase deficiency (GYS2 gene)
GHU Paris-Sud - Hôpital Antoine Béclčre
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
FREIBURG

Accreditation
Molecular diagnosis of glycogen storage disease type 0-7, 9, 11 (AGL, GBE1, GYS2, G6PC, LDHA, PFKM, PHKA2, PHKB, PHKG2, PYGL, PYGM, SLC37A4 genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Glycogen Storage Disease (GSD) type 0 (GYS2 gene: sequencing of coding regions)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Glycogen Storage Disease type 0 (GYS2 gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of glycogenose type 0 (GYS2 gene)
Paxis und Labor Dr. med Karl Mehnert
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 in case of Unexplained 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)

BELGIUM

LIEGE
LIEGE

Accreditation
Molecular diagnosis of Glycogen storage disease due to hepatic glycogen synthase deficiency (GYS2 gene)
CHU de LIEGE - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
Pränatalmedizin München
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

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of glycogen storage disease due to hepatic glycogen synthase deficiency (GYS2 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of glycogenose type 0 (GYS2 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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of glycogen storage disease (ALDOA, AGL, ENO3, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGM, SLC37A4 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Carbohydrate Metabolism Disorders (Analyte: Sugars and Sugaralcohols in urine)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation
Biochemical diagnosis of Carbohydrate metabolism disorder (reducing sugars: TLC, blood and urine)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Glycogen Storage Disease (Gene Panel; 18 genes: 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
Technique(s) : NGS sequencing (except WES)

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Biochemical diagnosis of glycogenose type 0
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of glycogen storage disease type (GAA, G6PC, GYS2, LAMP2, PYGM, SLC37A4 genes)
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

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Glycogenosis type 0, 7 and 10 (GYS2, PFKM and PGAM2 genes: 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

UNITED KINGDOM

Greater Manchester
MANCHESTER

Ashkenazi population testing with Tay-Sachs Disease, Familial Dysautonomia, Canavan Disease, Fanconi Anemia, Mucolipidosis IV, Niemann-Pick Disease, Glycogen Storage Disease and Blooms Syndrome disease panel
Elucigene Diagnostics
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of glycogenose type 0
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

LITHUANIA

DZUKIJA
VILNIUS

Biochemical diagnosis of carbohydrate metabolism by thin layer chromatography of carbohydrates
Vilnius University Hospital Santariskiu Klinikos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Glycogen Storage Disease type 0 (Analyte: Glycogen Synthetase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Molecular diagnosis of glycogenosis types 0, Ia, Ib, IIIb, V, VI, VII, IXa, IXb, IXc (GYS2, G6PC, SLC37A4, AGL, PHKA2, PHKB, PHKG2, PYGM, PYGL and PFKM genes)
CGMJM - Centro de Genética Médica Jacinto Magalhăes
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Biochemical diagnosis of carbohydrate metabolism disorder (reducing sugars: TLC in urine)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of glycogen storage disease due to hepatic glycogen synthase deficiency (GYS2 gene)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing