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

NETHERLANDS
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)

NETHERLANDS
Gelderland
NIJMEGEN
Molecular diagnosis of X-linked Intellectual Deficit due to X-chromosome Inactivation (RFLP and methylation analysis of x-chromosome)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Methylation analysis
Technique(s)
: MLPA based techniques

GERMANY
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

SPAIN
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

GERMANY
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

FRANCE
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

GERMANY
Bayern
MÜNCHEN
Molecular diagnosis of X-linked intellectual disability (NGS panel, 115 genes)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

GERMANY
Baden-Württemberg
TÜBINGEN
Molecular diagnosis of phosphoglycerate kinase 1 deficiency (PGK1 gene)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NETHERLANDS
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

NETHERLANDS
Utrecht
UTRECHT
Biochemical diagnosis of Hemolytic Anemia due to Phosphoglycerate Kinase Deficiency (Phosphoglycerate Kinase activity)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

BELGIUM
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

UNITED KINGDOM
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)

FRANCE
AUVERGNE-RHONE-ALPES
BRON
Biochemical diagnosis of phosphoglycerate kinase deficiency
CHU de Lyon HCL - GH Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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
ILE-DE-FRANCE
CRÉTEIL
Diagnosis of phosphoglycerate kinase 1 deficiency (PGK1 gene)
CHU Henri Mondor
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)
: Sanger sequencing

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
Technique(s)
: NGS sequencing (except WES)

SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of rare hemolytic anemia (gene panel)
BLOODGENETICS S.L
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

SPAIN
Madrid
MADRID
Diagnosis of X-linked syndromic intellectual disability (panel)
Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ITALY
VENETO
PADOVA
Molecular diagnosis of intellectual disability syndromes [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)

GERMANY
Bayern
MÜNCHEN
Biochemical diagnosis of phosphoglycerate kinase 1 deficiency
Klinikum Schwabing, Städt. Klinikum GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of phosphoglycerate kinase deficiency in magnetic resonance
Université de médecine Aix-Marseille Université
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Imaging

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 Phosphoglycerate Kinase Deficiency (Analyte: Phosphoglycerate Kinase)
Erasmus MC, Faculteitsgebouw
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

ITALY
VENETO
PADOVA
Personalised preimplantation genetic diagnosis: microsatellite analysis on the first polar globule
Policlinico Universitario di Padova
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics

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

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 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 Phosphoglycerate Kinase Deficiency (PGK1 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

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