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FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Molecular diagnosis of glycogen storage disease type IA et IB (G6PC and SLC37A4 genes)
GHU Paris-Sud - 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

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)

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

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

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of glycogen storage disease type 1 (G6PC, SLC37A4 genes)
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

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

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular 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

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

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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)

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
Technique(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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type b (SLC37A4 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, 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

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular 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
Technique(s) : Sanger sequencing

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

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 and molecular diagnosis of glycogen storage disease type 1A and 1B (G6PC and SLC37A4 genes)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Diagnosis of glycogen storage disease type 1 (G6PC gene / mutations Arg83Cys, Gln347X)
Genetaq
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

PORTUGAL

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

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

SPAIN

Madrid
CANTOBLANCO

Biochemical and molecular diagnosis of glycogenosis due to glucose-6-phosphatase deficiency type b (SLC37A4 gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Comunidad Valenciana
PATERNA

'Molecular diagnosis of glycogenosis due to glucose-6-phosphatase deficiency type b (SLC37A4 gene; entire coding sequence)'
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)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type b (SLC37A4 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

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

FRANCE

HAUTS-DE-FRANCE
LILLE

Diagnosis of inflammatory bowel disease (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, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
MÜNCHEN

Biochemical and molecular 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

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 and molecular diagnosis of glycogen storage disease type 1A and 1B (enzyme activity assay; mutation screening of G6PC, SLC37A4 genes)
Medizinische Fakultät der Universität Leipzig
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

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Glycogen Storage Disease type 1B (Analyte: Glucose-6-Translocase T1)
Great Ormond Street Hospital for Children, NHS Foundation Trust
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 1C (Analyte: Glucose-6-Translocase T2)
Great Ormond Street Hospital for Children, NHS Foundation Trust
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 1D (Analyte: Glucose-6-Translocase T3)
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 Von Gierke Disease (Analyte: Glucose-6-phosphatase)
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 Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
ULM

Immunological diagnosis of primary immunodeficiencies (PID) - Immunophenotyping including adhesion molecules
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology

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

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

BELGIUM

OOST-VLAANDEREN
GENT

Immunochemical diagnosis of TLR signaling defect (cytokine production IL6, IL1beta, IL10 upon stimulation with TLR ligands)
Ghent University Hospital - UZGent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Immunology
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

'Diagnosis of glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (gene SLC37A4; mutation screening of c.1042-1043delCT & p.G339C)'
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

SPAIN

Cataluña
BARCELONA

Diagnóstico de la enfermedad de almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa tipo Ib (gen SLC37A4)
Hospital Universitari Vall d'Hebron - Area Materno Infantil
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing