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Caption : Accreditation =Accreditation
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    • FRANCE
    • ILE-DE-FRANCE
    • CLAMART
    • Accreditation
    • Molecular diagnosis of type V gycogenosis (complete sequencing of PYGM gene)
    • GHU Paris-Sud - Hôpital Antoine Béclère
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of glycogen storage disease type 5 (PYGM gene: sequencing, MLPA)
    • Pränatalmedizin München
    • More information
    • GERMANY
    • Bayern
    • NEU-ULM
    • Accreditation
    • Molecular diagnosis of glycogen storage disease type 5 (PYGM gene)
    • Paxis und Labor Dr. med Karl Mehnert
    • More information
    • BELGIUM
    • LIEGE
    • LIEGE
    • Accreditation
    • Molecular diagnosis of Glycogen storage disease due to muscle glycogen phosphorylase deficiency (PYGM gene)
    • CHU de LIEGE - UniLab Lg
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Accreditation
    • Molecular diagnosis of Mc Ardle's disease (PYGM gene)
    • Erasme Hospital - ULB
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Glycogen Storage Disease (GSD) type 5 (PYGM gene: sequencing of coding regions)
    • Sheffield Children's NHS Foundation Trust
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Myophosphorylase Deficiency (PYGM gene)
    • Radboudumc - Radboud universitair medisch centrum
    • 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
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Molecular diagnosis of McArdle disease (glycogen storage disease type 5, PYGM gene c.148CT -p.Arg50X & c.613GA -p.Gly205Ser)
    • Birmingham Children's Hospital
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of glycogen storage disease type 5 (PYGM 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
    • Hessen
    • FRANKFURT AM MAIN
    • Accreditation
    • Molecular diagnosis of glycogen storage disease type 5 (PYGM gene)
    • Zentrum für Humangenetik
    • 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
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of glycogen storage disease type 3 and 5 (AGL and PYGM genes)
    • CeGaT GmbH
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical and molecular diagnosis of glycogen storage disease type 5 (frequent mutation in PYGM gene)
    • CHU de Lyon-GH Est - Hospices Civils de Lyon
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Biochemical and molecular diagnosis of glycogen storage disease type 5 : search for mutation in PYGM gene
    • Hôpital de la Conception - AP-HM
    • More information
    • ITALY
    • VENETO
    • COSTOZZA DI LONGARE
    • Molecular diagnosis of myophosphorylase deficiency (PYGM gene)
    • B.I.R.D. Foundation
    • More information
    • SPAIN
    • Canarias
    • LAS PALMAS DE GRAN CANARIA
    • Molecular diagnosis of myophosphorylase deficiency (PYGM gene)
    • Complejo Hospitalario Universitario Insular-Materno Infantil
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical and molecular diagnosis of myophosphorylase deficiency (PYGM gene)
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molekular diagnosis of glycogen storage disease type 5 (PYGM gene)
    • Medizinische Universität Wien
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of myophosphorylase deficiency (PYGM gene)
    • Sistemas Genómicos S.L.
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of glycogen storage disease type 4, 5 (GBE1, PYGM genes)
    • Praxis Dres. Gencik
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Glycogenoses (GAA, GBE1, and PYGM genes)
    • Praxis für Humangenetik
    • More information
    • 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
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of glycogen storage disease due to muscle glycogen phosphorylase deficiency (PYGM gene / gene sequencing and ARG50X, GLY205SER)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of NARP syndrome (MT-ATP6 & MT-ATP8 genes in blood, muscle and liver tissue by PCR)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • AUSTRIA
    • TIROL
    • INNSBRUCK
    • Molecular diagnosis of glycogen storage disease type 5 (PYGM gene)
    • Medizinische Universität Innsbruck
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of glycogen storage disease type 5 (PYGM gene)
    • Diagenom GmbH
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of glycogen storage disease type 5 (PYGM gene: sequencing and mutations R49X, G204S, Y84X, W797R, 708/709del)
    • Genetaq
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of myophosphorylase deficiency (PYGM gene - p.Arg50Stp mutation / entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of glycogen storage disease due to muscle glycogen phosphorylase deficiency (PYGM gene)
    • Hospital Universitari General Vall d'Hebron
    • 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 Mc Ardle disease (Western blot screening then muscular myophosphorylase 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
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of glycogen storage disease type 5
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • BOLOGNA
    • Molecular diagnosis of glycogenosis type 1a, 1b, 2, 5 (G6PC, SLC37A4, GAA, PYGM genes)
    • Azienda Ospedaliera di Bologna - Policlinico S. Orsola-Malpighi
    • 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 McArdle Disease (Analyte: Phosphorylase Muscle)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • SPAIN
    • Comunidad Valenciana
    • VALENCIA
    • Molecular diagnosis of myophosphorylase deficiency (PYGM gene)
    • INCLIVA
    • 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 and molecular diagnosis of glycogen storage disease type 5 (enzyme activity assay; mutation screening of PYGM gene)
    • Medizinische Fakultät der Universität Leipzig
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Glycogen Storage Disease type 5 (McArdle disease, Analyte: Muscle Phosphorylase)
    • Great Ormond Street Hospital NHS Foundation Trust
    • More information
    • SPAIN
    • Madrid
    • MAJADAHONDA
    • Molecular diagnosis of myophosphorylase deficiency (sequencing of PYGM gene)
    • Genyca Innova
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of myophosphorylase deficiency (PYGM gene)
    • 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
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of glycogen storage disease due to muscle glycogen phosphorylase deficiency (PYGM 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