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30 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
    • Hôpitaux Universitaires de Genève HUG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Biochemical and molecular diagnosis of mucolipidosis type 2, 3, 4 (enzyme assay/ GNPTAB, MCOLN1 genes: sequencing)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular screening of frequent diseases in Ashkenazi Jewish populations (APEX: ABCC8, AGL, ASPA, BCKDHB, BLM, CFTR, CLRN1, DLD, F11, FANCC, G6PC, GBA, GJB2, HEXA, IKBKAP, LDLR, MCOLN1, MEFV, NEB, PCDH15, SERPINA1, SMPD1, TMEM216 and TOR1A genes)
    • Asper Biotech Ltd.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Accreditation
    • Molecular diagnosis of mucolipidosis type 2, 3, 4 (GNPTAB, MCOLN1 genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of mucolipidosis type 2 , 3 and 4 (GNPTAB, GNPTG, MCOLN1 genes: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
    • Genetica AG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular Diagnosis of Mucolipidosis IV (MCOLN1 targeted mutation analysis)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : PCR based techniques
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Biochemical diagnosis of Oligosaccharidoses (Analyte: Oligosaccharides)
    • Royal Hospital for Sick Children
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Strathclyde
    • GLASGOW
    • Accreditation
    • Biochemical diagnosis of Lysosomal Storage disorders (Analyte: Chitotriosidase)
    • St Mary's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Molecular and Biochemical diagnosis of Mucolipidosis IV (MCOLN1, Mucolipin I analysis)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Accreditation
    • Molecular diagnosis of Mucolipidosis type IV (MCOLN1 gene)
    • VUmc - VU medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of mucolipidosis type 4 (MCOLN1 gene)
    • Laboratorio Genoma
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of type 2 mucoplipidosis (complete MCOLN1 gene sequencing)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Ashkenazi population testing with Tay-Sachs Disease, Familial Dysautonomia, Canavan Disease, Fanconi Anemia, Mucolipidosis IV, Niemann-Pick Disease, Glycogen Storage Disease and Blooms Syndrome disease panel
    • Elucigene Diagnostics
    • Purpose(s) : Somatic genetics
    • Specialty(ies) : Cytogenetics
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Molecular diagnosis of Mucolipidosis type 4 (MCOLN1 gene: Sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemcial diagnosis of mucolipidosis type 4
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening, PGD)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Molecular diagnosis of Mucolipidosis type 4 (ML4) (MCOLN1, Mutation analysis, Carrier screening)
    • Carmel Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • HAIFA
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
    • Kaplan Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • REHOVOT
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
    • The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • HAIFA
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
    • Sheba Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • RAMAT GAN
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
    • Rabin Medical Center - Beilinson Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • PETAH TIKVA
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
    • Assaf Harofeh Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • BEER YAAKOV
    • Biochemical diagnosis of Oligosaccharidoses (Analyte: Oligosaccharides)
    • Charles University - First faculty of medicine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Biochemical marker for Lysosomal Storage Diseases (Analyte: Chitotriosidase)
    • AZM - Academisch Ziekenhuis Maastricht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Molecular diagnosis of mucolipidosis type 4 (MCOLN1 gene)
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Allgemeines Krankenhaus der Stadt Wien
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Mucolipidosis IV (MCOLN1 gene)
    • Medizinische Universität Graz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ