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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
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Glycogen Storage Disease (GSD) type 7 (PFKM gene: sequencing of coding regions)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Molecular diagnosis of type VII gycogenosis (PFKM gene)
GHU Paris-Sud - Hôpital Antoine Béclère
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of glycogen storage disease type 7 (PFKM gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of glycogen storage disease type 1-7, 9, 11 and 13 (AGL, ENO3, GAA, GBE1, G6PC, LDHA, PFKM, PHKA2, PYGL, PYGM and SLC37A4 genes)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of glycogen storage disease (ALDOA, AGL, ENO3, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK1, PGM1, 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
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Tarui Disease (PFKM gene)
VUmc - VU medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Hemolytic Anemia due to Phosphofructokinase Deficiency (Phosphofructokinase activity)
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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

RHONE-ALPES
BRON

Biochemical diagnosis of glycogen storage disease type 7
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of constitutional hemolytic anemia (Panel)
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ALSACE
STRASBOURG

Diagnosis of myopathy (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of glycogen storage disease type 7
Klinikum Schwabing, Städt. Klinikum GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of glycogen storage disease type 7
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

RHONE-ALPES
GRENOBLE

Biochemical diagnosis of glycogen storage disease type 7 (Western blot screening then muscular phosphofructokinase activity)
CHU de Grenoble site Nord - Institut de biologie et de pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technical procedure(s) : Western Blot

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Diagnosis of glycogen storage diseases types 5 and 7 in magnetic resonance
Université de médecine Aix-Marseille Université
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Imaging

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of glycogen storage disease (types 2, 5 and 7) on muscle biopsy
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

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

GERMANY

Sachsen
LEIPZIG

Biochemical diagnosis of glycogen storage disease type 7 (enzyme activity assay)
Medizinische Fakultät der Universität Leipzig
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Glycogen Storage Disease type 7 (Tarui disease, Analyte: Muscle Phosphofructokinase)
Great Ormond Street Hospital for Children, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Zuid-Holland
ROTTERDAM

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

GERMANY

Nordrhein-Westfalen
AACHEN

Reference Centre for neuromuscular diseases: neuropathological, molecular analysis and electronic microscopy of muscle, nerv and skin biopsies
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics, Immunology, Pathology
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 Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
BONN

Histological diagnosis of Neuromuscular diseases
Universitätsklinikum Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

SPAIN

Cataluña
BARCELONA

Biochemical diagnosis of muscular glycogenosis
Hospital Clínic i Provincial de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Molecular diagnosis of Hemolytic Anemia due to Phosphofructokinase Deficiency (PFKM gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Biochemical diagnosis of muscle phosphofructokinase deficiency (Analyte: Muscle Phosphofructokinase)
Instituto de Investigación Hospital 12 de Octubre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Glycogen storage disease due to muscle phosphofructokinase deficiency
Hammersmith Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
TAMPERE

Molecular diagnosis of Glycogen storage disease VII, GSD7 (PFKM gene: sequencing of exon 5)
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of glycogen storage disease due to muscle phosphofructokinase deficiency (PFKM 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
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of constitutional hemolytic anemia due to a red cell membrane anomaly (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)