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Caption : Accreditation =Accreditation
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    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of congenital FKRP-related muscular dystrophy (FKRP gene: sequencing, MLPA)
    • Medizinisch Genetisches Zentrum München
    • More information
    • FINLAND
    • Finland
    • HELSINKI
    • Accreditation
    • Molecular diagnosis of muscle eye brain disease (POMGNT1 gene c.1539+1G>A)
    • HUCH - Helsinki University Central Hospital
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Accreditation
    • Molecular diagnosis of muscle eye brain disease (FKRP, POMGNT1 genes: sequencing, MLPA, linkage analysis)
    • Universitätsklinikum Regensburg
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Muscle-Eye-Brain Disease (POMGNT1 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
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Biochemical diagnosis of Congenital Disorders of Glycosylation (Analysis of Transferrin and ApoCIII iso-electric focussing in plasma)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of muscle eye brain disease (FKRP, LARGE, POMT1, POMT2 genes)
    • MVZ Fenner & Krasemann
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Biochemical diagnosis of CDG syndrome
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Biochemical diagnosis of Carbohydrate-deficient Glycoprotein disorders (Analyte: Transferrin isoelectric focussing)
    • Birmingham Children's Hospital
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of CDG syndrome type Ia-o and IIa-j (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, B4GALT1, COG1, COG4, COG5, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MGAT2 , MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1 genes: sequencing)
    • CeGaT GmbH
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of CDG Syndrome (Analyte: Sialotransferrins)
    • AMC - Academisch Medisch Centrum
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical diagnosis of CDG syndrome
    • CHU de Lyon-GH Est - Hospices Civils de Lyon
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Biochemical diagnosis of CDG syndrome
    • CHRU de Lille - Centre de biologie pathologie génétique
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of alpha-dystroglycanopathies (POMT1, POMT2, POMGNT1, LARGE, FKTN, FKRP, ISPD, TMEM5, GTDC2, B3GALNT2 genes)
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of lissencephaly type 2 (POMT1, POMT2, POMGNT1, FKTN, FKRP, ISPD, TMEM5, B3GALNT2, GTDC2 and LARGE genes)
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of muscle eye brain disease (FKRP, POMGNT1 genes)
    • Universitätsklinikum Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of lissencephaly type 2 (FKRP, FKTN, POMT1, POMGNT1 genes)
    • Universitätsklinikum Freiburg
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical and molecular diagnosis of CDG syndromes (ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, COG1, COG4, COG5, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1 genes)
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Biochemical diagnosis of CDG syndrome
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Muscle-Eye-Brain Disease (LARGE, FKRP, POMGNT1, POMT1 and POMT2 genes)
    • Medizinische Universität Wien
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of muscle eye brain disease (POMGNT1-gene)
    • Praxis Dres. Gencik
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of lissencephaly (PAFAH1B1, DCX, POMT1, POMGNT1 genes)
    • Fundación Jiménez Díaz
    • More information
    • BELGIUM
    • LIEGE
    • LIEGE
    • Biochemical diagnosis of Carbohydrate Deficient Sialotransferrin (sialotransferrine profile by HPLC: serum)
    • CHU Sart Tilman - Liège
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of congenital FKRP-related muscular dystrophy (FKRP gene: sequencing)
    • Diagenom GmbH
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of muscle eye brain disease. POMGNT1 gene.
    • Genetaq
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2I (FKRP gene)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of congenital muscular dystrophy (LAMA2, FKRP, FCMD, POMGnT1, SEPN1 genes)
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of muscle eye brain disease (POMGNT1 and FKRP genes): analysis of the entire coding region
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of congenital muscular dystrophy (LMNA, FKRP, POMT1, POMT2 genes)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of congenital FKRP-related muscular dystrophy (FKRP gene: sequencing, MLPA)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical diagnosis of CDG syndromes (detection of major anomalies in the glycosylation of serum glycoproteins; PMM, PMI enzyme assays)
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical diagnosis of CDG syndromes associated with an o-glycosylation anomaly, mucine-type core1 (apolipoprotein C3 glycosylation study)
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Diagnosis of muscle eye brain disease on muscle biopsy
    • GH Henri Mondor
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of CDG syndrome
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of CDG syndrome
    • Hospital Clínic de Barcelona
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Molecular diagnosis of muscle eye brain disease (POMGNT1-gene)
    • Universität Regensburg
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Histological diagnosis of Neuromuscular diseases
    • Universitätsklinikum Bonn
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of CDG syndromes (CDG Ia to Io; IIa, IIb to IIo)
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular and immunological diagnosis of congenital muscular dystrophies due to altered glycosylation of alpha-dystroglycan (POMT1, POMT2, POMGNT1, FKRP, FKTN, LARGE genes)
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Biochemical diagnosis of CDG syndrome (transferrin isoelectric focusing)
    • Institute of Child Health
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Biochemical diagnosis of Congenital Disorders of Glycosylation (Analysis of Transferrin N-glycosylation and ApoCIII O-glycosylation by iso-electric focusing in plasma and CDG-II subtype identification by mass spectrometry of transferrin)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Molecular diagnosis of unsolved Congenital Disorders of Glycosylation (Whole exome sequencing with glycosylation filter)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Congenital Disorder of Glycosylation, type Ia (Analyte: Phosphomannomutase)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Congenital Disorder of Glycosylation, type Ib (Analyte: Phosphomannose Isomerase)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Molecular diagnosis of muscle eye brain disease (FKRP gene)
    • Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Diagnosis of muscle eye brain disease (muscle and nerve biopsies : histopathology, immunohistochemistry, electron microscopy)
    • Universitätsklinikum Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical and molecular diagnosis of CDG (Isoelectric focusing, enzyme activity, thin layer chromatography, HPLC / genes: ALG1-3, ALG6, ALG8, ALG9, ALG12, DPAGT1, DPM1, MPDU1, MPI, PMM2))
    • Universitätsklinikum Heidelberg
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of dystroglycanopathies: Walker Warburg syndrome, muscle eye brain disease, muscular dystrophy Fukuyama type, muscular dystrophy and limbgirdle muscular dystrophy, type 2K. POMT1, POMT2, FKTN, FKRP, POMGnT1, LARGE genes
    • Universidad Autónoma de Madrid. Facultad de Medicina
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Biochemical diagnosis of Carbohydrate-deficient glycoprotein (CDG) syndromes (transferrin isoelectric focusing)
    • Cliniques Universitaires UCL de Saint Luc - UCLStLuc
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Biochemical diagnosis of Carbohydrate-deficient glycoprotein (CDG) syndromes (total sialic acid)
    • Cliniques Universitaires UCL de Saint Luc - UCLStLuc
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Biochemical diagnosis of Carbohydrate-deficient glycoprotein (CDG) syndromes (unesterified sialic acid)
    • Cliniques Universitaires UCL de Saint Luc - UCLStLuc
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Biochemical diagnosis of congenital disorders of glycosylation (serum, plasma, isoelectric focusing of transferrins)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of CDG syndrome
    • Hospital Universitari Sant Joan de Déu
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of muscle eye brain disease (POMGNT1 gene)
    • Laboratorio de Genética Clínica, S.L.
    • 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
    • Biochemical diagnosis of Congenital Disorders of Glycosylation (transferrin isoelectric focusing)
    • National Hospital for Neurology and Neurosurgery
    • More information