Search for a diagnostic test
43 Result(s)
Caption
: Accreditation
= ;

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Biochemical diagnosis of glycogen storage disease type 4
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Baden-Württemberg
FREIBURG
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

South Yorkshire
SHEFFIELD
Molecular diagnosis of Glycogen Storage Disease (GSD) type 4 (GBE1 gene: sequencing of coding regions)
Sheffield Children's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Gelderland
NIJMEGEN
Molecular diagnosis of Glycogen Storage Disease type 4 (GBE1 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

Gelderland
NIJMEGEN
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)

Hamburg
HAMBURG
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
Technique(s)
: Sanger sequencing

TIROL
INNSBRUCK
Molecular diagnosis of glycogen storage disease type 4 (GBE1 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

Bayern
MÜNCHEN
Molecular diagnosis of myopathy /muscular dystrophy (NGS screening panel, 228 genes)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Zuid-Holland
ROTTERDAM
Molecular diagnosis of Glycogen Storage Disease type 4 (GBE1 gene)
Erasmus MC, Faculteitsgebouw
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)
: Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of metabolic myopathy (gene panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

ILE-DE-FRANCE
CLAMART
Diagnsotic of glycogen storage disease due to glycogen branching enzyme deficiency (GBE1 gene)
GHU Paris-Sud - Hôpital Antoine Béclère
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
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

GRAND-EST
STRASBOURG
Diagnosis of myopathy (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of metabolic liver diseases (Panel)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Utrecht
UTRECHT
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)

Baden-Württemberg
TÜBINGEN
Molecular 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

Utrecht
UTRECHT
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

ANTWERPEN
ANTWERPEN
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

Greater London
LONDON
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)

Noord-Holland
AMSTERDAM
Molecular diagnosis of Glycogen Storage Disease type 2, 4 and 7 (GAA, GBE1 and PFKM gene)
VUmc - VU medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

AUVERGNE-RHONE-ALPES
BRON
Biochemical and molecular diagnosis of glycogen storage disease type 4 (GBE1 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, Analyte / Enzyme assay
Technique(s)
: Sanger sequencing

Niedersachsen
OSNABRÜCK
Molecular diagnosis of glycogen storage disease type 4, 5 (GBE1, PYGM genes)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NORTE
PORTO
Molecular diagnosis of glycogen storage disease type I, II, IV and V (G6PC, SLC37A4, GAA, GBE1 and PYGM genes: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis, Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Niedersachsen
OSNABRÜCK
Molecular diagnosis of polyglucosan body disease (GBE1 gene)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Diagnosis of glycogen branching enzyme deficiency (GBE1 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

Comunidad Valenciana
PATERNA
Molecular diagnosis of glycogen storage disease due to glycogen branching enzyme deficiency (GBE1 gene / complete sequencing)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

Sachsen
DRESDEN
Molecular diagnosis of glycogen storage disease type 4, 5 (GBE1, PYGM genes: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of glycogen storage diseases (GBE1, LAMP2, SLC2A2, and PYGM genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

HAUTS-DE-FRANCE
LILLE
Diagnosis of inherited disorders of cholestasis (Panel)
CHRU 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)

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)

Bayern
MÜNCHEN
Biochemical diagnosis of glycogen storage disease type 3, 4, 5, 6A, 6B
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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

Sachsen
LEIPZIG
Biochemical diagnosis of glycogen storage disease type 4 (enzyme activity assay)
Medizinische Fakultät der Universität Leipzig
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

ISRAEL
JERUSALEM
Molecular diagnosis of Adult Polyglucosan disease (Glycogen Branching enzyme, Mutation analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Capital City Prague
PRAHA
Molecular diagnosis of glycogen storage disease type 4 (GBE1 gene)
Charles University - First faculty of medicine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Greater London
LONDON
Biochemical diagnosis of Glycogen Storage Disease type 4 (Andersen disease, Analyte: amylo (1,4 : 1,6) transglucosidase)
Great Ormond Street Hospital for Children, NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Zuid-Holland
ROTTERDAM
Biochemical diagnosis of Andersen Disease (Analyte: Branching Enzyme)
Erasmus MC, Faculteitsgebouw
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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

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

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

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

Madrid
SAN SEBASTIÁN DE LOS REYES