Skip to
  1. Homepage
  2. Diagnostic tests
  3. Search
Simple search

Simple search

*
(*) mandatory field




 

Other search option(s)

43 matching term(s)

Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of Limb-Girdle Muscular Dystrophy (LMNA, DES, CAV3, TCAP, LDB3, MYOZ2 and PLN gene)
    • AZM - Academisch Ziekenhuis Maastricht
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of limb-girdle muscular dystrophy type 1A-C, 2A-N (ANO5, CAPN3, CAV3, DYSF, FKRP, FKTN, LMNA, MYOT, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32 and TTN)
    • Centogene AG
    • 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 muscular dystrophy limb-girdle type 1A-C, 1E, 2A-K, 2M, 2N (CAPN3, CAV3, DES, DYSF, FKRP, FKTN, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN, POMT1 and POMT2 genes)
    • MVZ Fenner & Krasemann
    • More information
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • Accreditation
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • Accreditation
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • Accreditation
    • 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
    • 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 Limb-girdle muscular dystrophy (MYOT, LMNA, CAV3, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, FKRP, POMT1, ANO5, and POMT2 genes)
    • Praxis für Humangenetik
    • More information
    • BELGIUM
    • LIEGE
    • LIEGE
    • Biochemical diagnosis of Carbohydrate Deficient Sialotransferrin (sialotransferrine profile by HPLC: serum)
    • CHU Sart Tilman - Ličge
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of limb-girdle muscular dystrophies, autosomal recessive forms, types 2A, 2B, 2C, 2D, 2E, 2F, 2G, 2H, 2K, 2N, 2O, 2M, 2I, 2L
    • CGMJM - Centro de Genética Médica Jacinto Magalhăes
    • More information
    • SPAIN
    • La Rioja
    • LOGROŃO
    • Molecular diagnosis of limb-girdle muscular dystrophy (multigenic panel - NGS)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • 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
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of CDG syndrome
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • More information
    • SPAIN
    • Cataluńa
    • BARCELONA
    • Biochemical diagnosis of CDG syndrome
    • Hospital Clínic de Barcelona
    • 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 Magalhăes
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular and immunological diagnosis of autosomal recessive limb-girdle muscolar dystrophy (CAPN3, DYSF, SGCG, SGCA, SGCB, FKRP, TTN, POMT1, ANO5, FKTN, POMT2, POMGNT1 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 muscular dystrophy limb-girdle autosomal recessive type 2A, 2B, 2C, 2D, 2E, 2F, 2G, 2H, 2I , 2J, 2K, 2L, 2N (CAPN3, SGCA, SGCB, SGCD, SGCG, DYSF, TRIM32, POMT1, TTN, ANO5, POMT2 genes) gene)
    • Azienda Ospedaliera Universitaria - Seconda Universitŕ degli Studi di Napoli
    • 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
    • ISRAEL
    • ISRAEL
    • BEER YAAKOV
    • Molecular diagnosis of Limb girdle muscular dystrophy (DYSF , Mutation analysis, Carrier detection)
    • Assaf Harofeh Medical Center
    • 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
    • Cataluńa
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of CDG syndrome
    • Hospital Universitari Sant Joan de Déu
    • 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