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Caption : Accreditation =Accreditation
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    • FRANCE
    • ILE-DE-FRANCE
    • CLAMART
    • Accreditation
    • Molecular diagnosis of type VII gycogenosis (complete sequencing of PFKM gene)
    • GHU Paris-Sud - Hôpital Antoine Béclère
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Glycogen Storage Disease (GSD) type 7 (PFKM gene: sequencing of coding regions)
    • Sheffield Children's NHS Foundation Trust
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of glycogen storage disease type 0-5, 7, 9, 11 (AGL, GBE1, GYS2, G6PC, LDHA, PFKM, PHKA2, PHKB, PHKG2, PYGM, SLC37A4 genes)
    • Praxis für Humangenetik Freiburg
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of glycogen storage disease type 7 (PFKM gene)
    • Centogene AG
    • More information
    • 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
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Biochemical diagnosis of Carbohydrate Metabolism Disorders (Analyte: Sugars and Sugaralcohols in urine)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • More information
    • 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
    • More information
    • 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
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Tarui Disease (PFKM gene)
    • VUmc - VU medisch centrum
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Biochemical diagnosis of Hemolytic Anemia due to Phosphofructokinase Deficiency (Phosphofructokinase activity)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Molecular diagnosis of glycogen storage disease due to muscle phosphofructokinase deficiency (PFKM gene)
    • GH Henri Mondor
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical diagnosis of glycogen storage disease type 7
    • CHU de Lyon HCL - GH Est
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Glycogenosis type 0, 7 and 10 (GYS2, PFKM and PGAM2 genes: Sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Diagnosis of glycogen storage disease (types 2, 5 and 7) on muscle biopsy
    • GH Henri Mondor
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Biochemical diagnosis of glycogen storage disease type 7 (Western blot screening then muscular phosphofructokinase activity)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of glycogen storage disease type 7
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of glycogen storage disease type 7
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Histological diagnosis of Neuromuscular diseases
    • Universitätsklinikum Bonn
    • More information
    • 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
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Diagnosis of glycogen storage diseases types 5 and 7 in magnetic resonance
    • CHU de Marseille - Hôpital de la Timone
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of muscular glycogenosis
    • Universitat de Barcelona. Facultat de Medicina
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Tarui Disease (Analyte: Phosphofructokinase)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • LITHUANIA
    • DZUKIJA
    • VILNIUS
    • Biochemical diagnosis of carbohydrate metabolism by thin layer chromatography of carbohydrates
    • Vilnius University Hospital Santariskiu Klinikos
    • More information
    • GERMANY
    • Sachsen
    • LEIPZIG
    • Biochemical diagnosis of glycogen storage disease type 7 (enzyme activity assay)
    • Medizinische Fakultät der Universität Leipzig
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Glycogen Storage Disease type 7 (Tarui disease, Analyte: Muscle Phosphofructokinase)
    • Great Ormond Street Hospital NHS Foundation Trust
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Molecular diagnosis of Hemolytic Anemia due to Phosphofructokinase Deficiency (PFKM gene)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Biochemical diagnosis of muscle phosphofructokinase deficiency (Analyte: Muscle Phosphofructokinase)
    • Hospital Universitario 12 de Octubre
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Medizinische Universität Wien
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Molecular diagnosis of Glycogen storage disease due to muscle phosphofructokinase deficiency
    • Hammersmith Hospital
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Biochemical diagnosis of carbohydrate metabolism disorder (reducing sugars: TLC in urine)
    • University Hospital Bratislava - Stare mesto
    • More information