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FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation Diagnosis of glycogen storage disease type IA et IB (G6PC and SLC37A4 genes)
Hôpital Antoine Béclère
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, PCR based techniques

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Molecular diagnosis of glycogen storage disease type 1a and 1b (G6PC and SLC37A4 genes)
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

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SWITZERLAND

Suisse Romande
GENÈVE

Accreditation Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Glycogen Storage disease type Ia (G6PC gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NETHERLANDS

Groningen
GRONINGEN

Accreditation Molecular diagnosis of Glycogen Storage Disease type 1A and 1B (G6PC and G6PT1 gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
NEU-ULM

Accreditation Diagnosis of glycogen storage disease type 1 (G6PC, SLC37A4 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Glycogen Storage Disease type 0, 1A, 2, 3, 4, 5, 6, 7, 9A, 9B, 9C, 10, 11, 12 and 13 (GYS1, GYS2, G6PC, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PHKB, PHKG2, PGAM2, LDHA, ALDOA and ENO3 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

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GERMANY

Bayern
MARTINSRIED

Accreditation Diagnosis of congenital neutropenia (NGS screening panel, 21 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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ESTONIA

Tartu
TARTU

Accreditation Molecular screening of frequent diseases in Ashkenazi Jewish populations (panel)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Baden-Württemberg
FREIBURG

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

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of glycogen storage disease type 1 and 5 (G6PC, PYGM, SLC37A4 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Molecular diagnosis of Glycogen Storage Disease (GSD) type 1 (G6PC & SLC37A4 genes: sequencing of coding regions)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of glycogen storage disease type 1A, 2-5, X (AGL, GAA, GBE1, G6PC, PGAM2, PYGM genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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)

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BELGIUM

LIEGE
LIEGE

Accreditation Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (G6PC gene)
CHU de Liège - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation 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
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation 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)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of inflammatory bowel disease (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Antenatal diagnosis, Post-natal 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)

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GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation Diagnosis of glycogen storage disease type 1, 2 and 5 (GAA, G6PC, PYGM, SLC37A4 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
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

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of constitutional neutropenia (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)

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Glycogen Storage Disease (gene panel; MET06v16.2)
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)

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of glycogenosis (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : 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

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of inborn errors of metabolism and liver failure (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Primary Immunodeficiency (gene panel; PID00v17.1)
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)

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of glycogen storage disorders (NGS screening panel: 23 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)

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of rare liver diseases (NGS screening panel, 118 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)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of glycogen-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)

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular diagnosis of Glycogen Storage diease type 1B (SLC37A4 gene c.1042_1043delCT, c.1015GT -p.Gly339Cys & c.936_937insA)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular diagnosis of glycogen storage disease, type 1A (G6PC gene c.247CT -p.Arg83Cys, c.1039CT -p.Gln347X & c.150_151delGT)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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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

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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

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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)

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ITALY

LIGURIA
GENOVA

Molecular diagnosis of glycogen storage disease type 1A (G6PC gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of glycogen storage disease type 1A (G6PC gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
MONZA

Molecular diagnosis of glycogen storage disease, type 1A (G6PC gene)
ASST Monza - Ospedale San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
BARCELONA

Diagnosis of the glycogen storage disease type 1A (G6PC gene; SNP array)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

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SWITZERLAND

Suisse Alémanique
REINACH

Molecular diagnosis of Glycogen Storage disease type Ia (G6PC gene)
Diagene Laboratories Inc.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Andalucía
MÁLAGA

Diagnosis of glycogen storage disease type 1 (G6PC gene / mutations Arg83Cys, Gln347X)
IMEGEN - Delegación Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of glycogenosis due to glucose-6-phosphatase deficiency type a (G6PC gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Madrid
CANTOBLANCO

Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (SLC37A4 gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Baden-Württemberg
STUTTGART

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

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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
Elucigene Diagnostics
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (G6PC 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
Technique(s) : Sanger sequencing

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (gene SLC37A4)
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
Technique(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of glycogen storage deficiency (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)

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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

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ITALY

VENETO
PADOVA

Molecular diagnosis of hereditary liver diseases [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)

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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)

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency (G6PC gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of glycogen storage disease (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Madrid
CANTOBLANCO

Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (G6PC 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

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SPAIN

Galicia
A CORUÑA

Diagnosis of rare genetic immune disease (panel - 458 genes)
Health In Code
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)

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SPAIN

Galicia
A CORUÑA

Diagnosis of primary immunodeficiency (panel - 301 genes)
Health In Code
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)

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SPAIN

Galicia
A CORUÑA

Diagnosis of congenital phagocyte defect (panel - 44 genes)
Health In Code
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)

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SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of rare inborn errors of metabolism (panel)
Hospital Clínico Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
BARCELONA

Diagnosis of primary immunodeficiency (panel)
Hospital Universitari Vall d'Hebron
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)

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ITALY

VENETO
PADOVA

Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (SLC37A4 gene)
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) : Sanger sequencing

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ITALY

VENETO
PADOVA

Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (G6PC gene)
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) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Diagnosis of glycogen storage disease type 1A and 1B (enzyme assay / G6PC and SLC37A4 genes)
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

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CZECH REPUBLIC

South Moravia
BRNO

Postnatal and prenatal molecular diagnosis of glycogen storage disease type 1a (G6PC gene)
University hospital Brno
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

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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

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ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Glycogen Storage Disease, GSD1a (G6Pase, Mutation analysis, Carrier screening, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
REHOVOT

Molecular diagnosis of Glycogen Storage disease, GSD1a (G6Pase, Mutation analysis, Carrier screening)
Kaplan Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Glycogen Storage Disease 1a (G6Pase, Mutation analysis, Carrier screening)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
RAMAT GAN

Molecular diagnosis of Glycogen Storage disease Ia (G6Pase, Mutation analysis, Carrier screening, PGD)
Sheba Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of Glycogen Storage Disease Type 1a (G6Pase, Mutation analysis, Carrier screening)
Rabin Medical Center - Beilinson Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
BARCELONA

Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (G6PC gene)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Glycogen Storage Disease type 1A (Analyte: Glucose-6-phosphatase)
University College London Hospitals, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Glycogen Storage Disease type 1B (Analyte: Glucose-6-Translocase T1)
University College London Hospitals, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Glycogen Storage Disease type 1C (Analyte: Glucose-6-Translocase T2)
University College London Hospitals, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Glycogen Storage Disease type 1D (Analyte: Glucose-6-Translocase T3)
University College London Hospitals, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Von Gierke Disease (Analyte: Glucose-6-phosphatase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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PORTUGAL

SUL
LISBOA

Molecular diagnosis of glycogen storage disease (glycogenosis) type 1A , 1B and 3 (G6PC, G6PT1, AGL genes): sequencing of the entire coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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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

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of glycogenosis due to glucose-6-phosphatase dficiency (G6PC gene)
Azienda Ospedaliera "San Paolo" - Università degli Studi di Milano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of glycogenosis type 1a, 1b, 2, 5 (G6PC, SLC37A4, GAA, PYGM genes)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of glycogenosis due to glucose-6-phosphatase deficiency type b (SLC37A4 gene)
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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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

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MOROCCO

Rabat
RABAT

Molecular diagnosis of glycogen storage disease type IA (Moroccan recurrent mutations)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
BARCELONA

Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (SLC37A4 gene)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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AUSTRIA

STEIERMARK
GRAZ

Molecular diagnosis of Glycogen storage disease type 1a (G6PC gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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

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