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39 Result(s)

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Result(s)sorted by

Caption : Accreditation =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
    • Molecular diagnosis of Riley-Day syndrome (IKBKAP gene)
    • Centrum für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hessen
    • BAD NAUHEIM
    • Accreditation
    • Molecular diagnosis of Riley-Day syndrome (IKBKAP gene)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of Familial Dysautonomia (IKBKAP gene)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of familial dysautonomia (IKBKAP gene)
    • Laboratoire Cerba
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • SAINT-OUEN-L'AUMÔNE
    • Accreditation
    • Molecular diagnosis of hereditary sensory and autonomic neuropathy type 1-5 (IKBKAP, NGF, NTRK1, SPTLC1 and WNK1 genes)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • 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 hereditary sensory and autonomic neuropathy (IKBKAP, SCN9A, SPTLC1 gene)
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of hereditary sensory and autonomic neuropathy type 1-5 (IKBKAP, NGF, NTRK1, SPTLC1 and WNK1 genes)
    • Diagenom GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of hereditary motor and sensory neuropathy type 3 (IKBKAP gene)
    • Institut für Humangenetik am Universitätsklinikum Jena
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Thüringen
    • JENA
    • 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 of Familial dysautonomia (IKBKAP gene)
    • Addenbrooke's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Accreditation
    • Molecular diagnosis of hereditary sensory and autonomic neuropathy type 1-5 (IKBKAP, NGF, NTRK1, SPTLC1 and WNK1 genes)
    • MVZ Fenner & Krasemann
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Riley-Day syndrome (IKBKAP gene)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular Diagnosis of Familial Dysautonomia (targeted mutation analysis of IKBKAP)
    • 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
    • Ashkenazi Jewish Panel (targeted mutation analysis of ASPA, FANCC, HEXA, IKBAP)
    • Health Sciences Centre
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • CANADA
    • Manitoba
    • WINNIPEG
    • Accreditation
    • Molecular diagnosis of Familial Dysautonomia (Riley Day syndrome, IKBKAP gene)
    • Guy's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of Riley-Day syndrome (IKBKAP gene)
    • Institut für angewandte Humangenetik und Onkogenetik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • BAD STEBEN
    • Molecular diagnosis of familial dysautonomia (IKBKAP gene)
    • Laboratorio Genoma
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of hereditary sensory and autonomic neuropathy type 1-5 (IKBKAP(exon 19), NGF, NTRK1, SPTLC1(exon 5,6) and WNK1 genes)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of Riley-Day syndrome (IKBKAP gene)
    • bio.logis Zentrum für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Molecular diagnosis of familial dysautonomia (IKBKAP gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of familial dysautonomia (IKBKAP gene)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of hereditary motor and sensory neuropathy type 3 (IKBKAP gene)
    • Klinikum Stuttgart - Standort Olgahospital
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • STUTTGART
    • Molecular diagnosis of Riley-Day syndrome (IKBKAP 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
    • Molecular diagnosis of familial dysautonomia (IKBKAP gene / mutation IVS20+6T>C (c.2204+6T>C))
    • Montreal Children's hospital - Hôpital de Montréal pour enfants
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CANADA
    • Québec
    • MONTRÉAL
    • Ashkenazi Jewish Carrier Screening (Founder Mutations in HEXA, IKBKAP, ASPA, FANCC)
    • BC Women's Hospital and Health Centre
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CANADA
    • Colombie-Britannique
    • VANCOUVER
    • Molecular diagnosis of familial dysautonomia (IKBKAP gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • 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 Riley-Day syndrome (IKBKAP gene)
    • Praxis Dr. med. Ulrike Beudt
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Molecular diagnosis of familial dysautonomia
    • Acibadem healthcare group
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Molecular diagnosis of Familial Dysautonomia (IKBKAP mutation analysis, carrier screening)
    • Kaplan Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • REHOVOT
    • Molecular diagnosis of Familial dysautonomia (IKBKAP, 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 Familial dysautonomia (IKBKAP, Mutation analysis, Carrier screening)
    • Carmel Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • HAIFA
    • Molecular diagnosis of Familial dysautonomia (IKBKAP, 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 Familial Dysautonomia (IKBKAP, Mutation analysis, Carrier screening, PGD)
    • Sheba Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • RAMAT GAN
    • Molecular diagnosis of Familial dysautonomia (IKBKAP, 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 Familial dysautonomia (IKBKAP, Mutation analysis, Carrier screening)
    • Assaf Harofeh Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • BEER YAAKOV
    • Molecular diagnosis of Familial dysautonomia (IKBKAP, Mutation analysis, Carrier screening, PGD)
    • Wolfson Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON