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Caption : Accreditation =Accreditation
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    • GERMANY
    • Nordrhein-Westfalen
    • BOCHUM
    • Accreditation
    • Molecular diagnosis of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomales type A 11 (B3GALNT2 gene)
    • Ruhr-Universität Bochum
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of congenital FKRP-related muscular dystrophy (FKRP gene: sequencing, MLPA)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of Walker-Warburg syndrome (POMT1, POMT2 genes: sequencing)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • More information
    • GERMANY
    • Bayern
    • WÜRZBURG
    • Accreditation
    • Molecular diagnosis of congenital muscular dystrophy type 1 (FKRP gene)
    • Universität Würzburg - Biozentrum
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Accreditation
    • Molecular diagnosis of congenital muscular dystrophy type 1D (LARGE gene: sequencing / MLPA / linkage analysis)
    • Universitätsklinikum Regensburg
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Accreditation
    • Molecular diagnosis of Walker-Warburg syndrome (FKRP, FKTN, ISPD, LARGE, POMT1, POMT2, POMGNT1 genes: sequencing, MLPA, linkage analysis)
    • Universitätsklinikum Regensburg
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Walker-Warburg Syndrome (FKRP, ISPD, LAMA2, LARGE , POMGNT1, POMT1, POMT2 and GTDC2 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 congenital muscular dystrophy type 1 (FKRP gene)
    • Praxis für Humangenetik Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Walker-Warburg syndrome (FKRP, FKTN, POMT1 and POMT2 genes)
    • Praxis für Humangenetik Freiburg
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of congenital muscular dystrophy type 1 / limb girdle muscular dystrophy type 2I (FKRP gene)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Walker-Warburg syndrome (FKRP, FKTN, LARGE, POMT1 and POMT2 genes)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of congenital muscular dystrophy type 1D (LARGE gene: sequencing / MLPA)
    • 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 Walker-Warburg syndrome (FKRP, FKTN, LARGE, POMT1 and POMT2 genes)
    • MVZ Fenner & Krasemann
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Biochemical diagnosis of CDG syndrome
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of Congenital Muscular Dystrophy type 1C (FKRP gene)
    • Guy's Hospital
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of Rigid Spine Muscular Dystrophy 1 (SEPN1 gene: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
    • Guy's Hospital
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Biochemical diagnosis of Carbohydrate-deficient Glycoprotein disorders (Analyte: Transferrin isoelectric focussing)
    • Birmingham Children's Hospital NHS Foundation Trust
    • 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
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Walker-Warburg syndrome (FKRP, FKTN, ISPD, LARGE, POMGNT1, POMT1, POMT2 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 HCL - GH Est
    • 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 Walker-Warburg syndrome (FKRP, FKTN, LARGE, POMT1 and POMT2 genes)
    • Universitätsklinikum Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of lissencephaly type 2 (FKRP, FKTN, POMT1, POMGNT1 genes)
    • Universitätsklinikum Freiburg
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of muscular dystrophy, congenital type 1C (FKRP gene)
    • IRCCS Ospedale San Raffaele
    • 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
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of lissencephaly (PAFAH1B1, DCX, POMT1 and POMGNT1 genes by MLPA)
    • Hospital Universitario La Paz
    • 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 congenital muscular dystrophy type 1C (FKRP gene)
    • Medizinische Universität Wien
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Walker-Warburg Syndrome (LARGE, FKTN, FKRP, POMGNT1, POMT1 and POMT2 genes)
    • Medizinische Universität Wien
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of congenital muscular dystrophy type 1D (LARGE gene)
    • Medizinische Universität Wien
    • 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 Walker-Warburg syndrome type 1. POMT1 gene.
    • Genetaq
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy, type 2I and congenital muscular dystrophies due to dystroglycanopathy (FKRP 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
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Walker-Warburg syndrome (POMT1, POMT2, LARGE, FKTN and FKRP genes - entire coding sequence)
    • 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 Walker-Warburg syndrome (FKRP, FKTN, LARGE, POMGNT1, POMT1 and POMT2 genes): analysis of the entire coding region
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of congenital muscular dystrophy types 1A, 1C, 1D (LAMA2, FKRP and LARGE genes): target mutation analysis - panel of mutations, analysis of the entire coding region and deletion/duplication analysis
    • 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 Walker-warburg syndrome by neuro-muscular 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 Walker-Warburg syndrome (POMT1-gene)
    • Universität Regensburg
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Molecular diagnosis of congenital muscular dystrophy type 1 / limb girdle muscular dystrophy type 2I (FKRP 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
    • FINLAND
    • Finland
    • TAMPERE
    • Molecular diagnosis of limb girdle muscular dystrophy 2I and congenital muscular dystrophy 1C by sequencing of FKRP gene
    • University of Tampere
    • 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, congenital, type 1C (FKRP gene)
    • Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Molecular diagnosis of congenital muscular dystrophy type 1C (LAMA2 gene)
    • Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of congenital muscular dystrophy type (analysis on muscle and nerve biopsies : histopathology, electron microscopy)
    • Universitätsklinikum Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Diagnosis of Walker-warburg syndrome (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 distrofia muscular congénita debida a una distroglicanopatía 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
    • GERMANY
    • Nordrhein-Westfalen
    • AACHEN
    • Reference Centre for neuromuscular diseases: neuropathological, molecular analysis and electronic microscopy of muscle, nerv and skin biopsies
    • Universitätsklinikum Aachen
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of ongenital muscular dystrophy due to dystroglycanopathy (FKRP 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