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23 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation ;

    • Accreditation
    • Molecular diagnosis of phosphoglycerate kinase 1 deficiency (PGK1 gene)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • 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
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • 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)
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • 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
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • 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
    • More information
    • BELGIUM
    • ANTWERPEN
    • ANTWERPEN
    • 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) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • 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) : Cytogenetics
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • 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
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • 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)
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • 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
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Diagnosis of phosphoglycerate kinase 1 deficiency (PGK1 gene)
    • GHU 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, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • 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
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Diagnosis of phosphoglycerate kinase deficiency in magnetic resonance
    • CHU de Marseille - Hôpital de la Timone
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Imaging
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • 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
    • More information
    • LITHUANIA
    • DZUKIJA
    • VILNIUS
    • 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
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Personalised preimplantation genetic diagnosis: microsatellite analysis on the first polar globule
    • Policlinico Universitario di Padova
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • 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
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • AACHEN
    • Histological diagnosis of Neuromuscular diseases
    • Universitätsklinikum Bonn
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • 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
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • 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
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Allgemeines Krankenhaus der Stadt Wien
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • 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
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Molecular diagnosis of Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • Hammersmith Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON