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Caption : Accreditation =Accreditation
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    • FRANCE
    • ILE-DE-FRANCE
    • CLAMART
    • Accreditation
    • Molecular diagnosis of type 9 glycogenosis (PHKA1, PHKG1 and PHKB genes)
    • GHU Paris-Sud - Hôpital Antoine Béclère
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Biochemical and molecular diagnosis of phosphorylase kinase deficiency (enzyme assay; PHKA2, PHKB and PHKG2 genes)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • BELGIUM
    • LIEGE
    • LIEGE
    • Accreditation
    • Molecular diagnosis of Glycogen storage disease due to liver phosphorylase kinase deficiency (PHKA2 gene)
    • CHU de LIEGE - UniLab Lg
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Glycogen Storage Disease (GSD) due to phosphorylase kinase deficiency (PHKA2, PHKB, PHKG2 genes: sequencing of coding regions)
    • Sheffield Children's NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Glycogen Storage Disease (GSD) type 8 (PHKG2 gene: sequencing of coding regions)
    • Sheffield Children's NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Glycogen storage disease due to muscle phosphorylase kinase deficiency - GSD type IXd (PHKA1, PHKG1 genes: 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 9D (PHKA1 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
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical diagnosis of muscular and liver phosphorylase kinase deficiency
    • CHU de Lyon HCL - GH Est
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical and molecular diagnosis of glycogen storage disease due to liver phosphorylase kinase deficiency (PHKA2 and PHKG2 genes)
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical and molecular diagnosis of glycogen storage disease due to muscle phosphorylase kinase deficiency (PHKA1 gene)
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • More information
    • AUSTRIA
    • TIROL
    • INNSBRUCK
    • Molecular diagnosis of glycogen storage disease type 9 (PHKA2, PHKG2 and PHKB gene)
    • Medizinische Universität Innsbruck
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of glycogen storage disease due to liver phosphorylase kinase deficiency (PHKA2 gene - entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (PHKB gene - entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Biochemical diagnosis of type 9 glycogenosis (Western blot screening then muscular phosphoglycerate kinase activity)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of glycogen storage disease type 3, 4, 5, 6A, 6B
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • 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
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Glycogen Storage Disease type 9 (Analyte: Phosphorylase Kinase)
    • 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 6A(VIII) (enzyme activity assay)
    • Medizinische Fakultät der Universität Leipzig
    • More information
    • GERMANY
    • Sachsen
    • LEIPZIG
    • Biochemical diagnosis of glycogen storage disease type 9 (enzyme activity assay)
    • Medizinische Fakultät der Universität Leipzig
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Glycogen Storage Disease, type 9 (Analyte: Phosphorylase b Kinase)
    • Great Ormond Street Hospital for Children, NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Biochemical diagnosis of Glycogen Storage Disease due to Phosphorylase Kinase deficiency (Phosphorylase b Kinase)
    • Clinical Sciences Building (CSB3)
    • 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
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of glycogen storage disease due to liver phosphorylase kinase deficiency (PHKG2 gene / sequencing)
    • GenoClinics
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Biochemical diagnosis of carbohydrate metabolism disorder (reducing sugars: TLC in urine)
    • University Hospital Bratislava - Stare mesto
    • More information