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13 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(13)
(3)
Technique(s)
(1)
Purpose(s)
(13)
Quality management
(7)
(10)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, EGR2, GDAP1, MPZ, GARS, HSPB1, HSPB8, LMNA, and NEFL genes)
    • Medizinische Universität Graz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 2A2, B, B1, B2, C, D, E, F, H, I, J, K, L, M, N, O, P, U (AARS, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, NEFL, RAB7A, TRPV4 genes)
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 2A1, A2, B1, B2, D, F, H-O (AARS, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, KIF1B, LMNA, MFN2, MPZ genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease, type 2: CMT2A2, CMT2B1, CMT2B2, CMT2D, CMT2E, CMT2F, CMT2I/2J, CMT2K, CMT2L, CMT2N (MFN2, RAB7A, LMNA, MED25, GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8, AARS genes)
    • Instituto de Biologia Molecular e Celular
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Accreditation
    • Molecular diagnosis of Hereditary Motor and Sensory Neuropathy (HMSN) by NGS: HMSN gene panel (Please refer to additional information: Genes concerned)
    • Liverpool Women's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 2B2 (MED25 gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 2A1, 2A2, B, B1, B2, D, E, F, H, I, J, K, L, M, N (AARS, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, KIF1B, LMNA, MED25, MFN2, MPZ, NEFL, RAB7A genes)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ, LITAF, EGR2, MFN2, TRPV4, and GJB1 genes)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 2B2 (MED25 gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Charcot-Marie-Tooth disease (multigenic panel - NGS)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 2B2 (MED25 genes: sequencing of 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
    • Postnatal molecular diagnosis of Charcot-Marie-Tooth disease (determined by Sanger sequencing and NGS)
    • Azienda Ospedaliera di Padova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 2B2 (entire coding sequence of MED25 gene)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES