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Caption : Accreditation =Accreditation
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    • GERMANY
    • Nordrhein-Westfalen
    • DÜSSELDORF
    • Accreditation
    • Molecular diagnosis of multiple exostoses (EXT1 and EXT2 genes)
    • Heinrich-Heine-Universität Düsseldorf
    • More information
    • GERMANY
    • Bayern
    • BAD STEBEN
    • Accreditation
    • Molecular diagnosis of multiple exostoses (EXT1 and EXT2 genes)
    • Institut für angewandte Humangenetik und Onkogenetik
    • More information
    • BELGIUM
    • ANTWERPEN
    • ANTWERPEN-EDEGEM
    • Accreditation
    • Molecular diagnosis of Multiple exostoses/osteochondromas (EXT1, EXT2 genes)
    • University and University Hospital of Antwerp - UZA
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of Multiple Exostoses (EXT1, 8q23-q24 and EXT2, 11p11-p12: full mutation screen)
    • Salisbury District Hospital
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • LEIDEN
    • Accreditation
    • Molecular diagnosis of Hereditary Multiple Exostoses (EXT1 and EXT2 gene)
    • LUMC - Leids 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
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular cytogenetic diagnosis of Multiple Exostoses (by FISH of EXT1 and EXT2)
    • Salisbury District Hospital
    • 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
    • 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 NHS Foundation Trust
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Accreditation
    • Preimplantation genetic diagnosis of the multiple exostoses (EXT1 and EXT2 gene)
    • Sistemas Genómicos S.L.
    • 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 multiple exostoses (EXT1 and EXT2 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
    • AUVERGNE
    • CLERMONT-FERRAND
    • Molecular diagnosis of multiple osteochondromas (EXT1 and EXT2 genes)
    • Faculté de médecine de Clermont-Ferrand
    • 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
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis multiple exostoses (EXT1 and EXT2 gene)
    • Istituto CSS-Mendel
    • More information
    • ITALY
    • PUGLIA
    • SAN GIOVANNI ROTONDO
    • Molecular diagnosis of multiple exostoses (EXT1, EXT2 genes)
    • IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of multiple exostoses (EXT1, EXT2 genes)
    • Laboratorio Genoma
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of multiple osteochondromas (EXT1, EXT2 genes)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • 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
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of multiple osteochondromas (EXT1 and EXT2 genes)
    • Sistemas Genómicos S.L.
    • More information
    • BELGIUM
    • LIEGE
    • LIEGE
    • Biochemical diagnosis of Carbohydrate Deficient Sialotransferrin (sialotransferrine profile by HPLC: serum)
    • CHU Sart Tilman - Liège
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of multiple exostoses (EXT1 and EXT2 genes: sequencing of the entire coding region and deletions/duplications analysis by MLPA)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Preimplantation genetic diagnosis of multiple osteochondromas (EXT1 and EXT2 genes)
    • Reprogenetics Spain S.A.
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of multiple osteochondromas (EXT1, EXT2 genes / entire coding sequence, MLPA)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of multiple osteochondromas (EXT1, EXT2 genes: sequencing and MLPA)
    • Genetaq
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of multiple exostoses (EXT1 and EXT2 genes / complete sequencing, MLPA)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of multiple exostoses (EXT1 gene: sequencing, MLPA)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of multiple exostoses (EXT2 gene: sequencing / MLPA)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Preimplantation genetic diagnosis of multiple osteochondromas (EXT1 gene)
    • CME Barcelona
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of multiple osteochondromas (EXT1, EXT2 genes / sequencing, MLPA)
    • GenoClinics
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Molecular cytogenetics diagnosis of multiple exostoses : search for microdeletion in EXT1 and EXT2 genes and in EXT3 locus
    • GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul
    • 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
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of CDG syndrome
    • Hospital Clínic de Barcelona
    • 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
    • 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
    • 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))
    • Dietmar-Hopp-Stoffwechselzentrum
    • 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
    • ITALY
    • EMILIA ROMAGNA
    • BOLOGNA
    • Molecular diagnosis of multiple exostoses (EXT1 e EXT2 genes)
    • Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of multiple exostoses (EXT1 and EXT2 genes)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Castilla - León
    • SALAMANCA
    • Molecular diagnosis of multiple exostoses (EXT1 and EXT2 genes)
    • Innovagenomics, S.L.
    • More information
    • SPAIN
    • Andalucía
    • ARMILLA
    • Molecular diagnosis of multiple exostoses (entire coding sequence of EXT1 and EXT2 genes)
    • Lorgen G.P.
    • 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
    • Comunidad Valenciana
    • PATERNA
    • Preimplantation genetic diagnosis of multiple osteochondromas (EXT1 gene)
    • Igenomix Spain
    • 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