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9 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(9)
(2)
(4)
Technique(s)
(4)
(2)
Purpose(s)
(9)
Quality management
(3)
(8)
Country(ies)
(2)
(3)
(1)
(3)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of spinocerebellar ataxia type 6, 13, 14, 19, 22, 27, 34 (CACNA1A, ELOVL4, FGF14, KCNC3, KCND3, PRKCG genes: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 12 , 17, 19, 22 (ATXN1-3, ATXN7, ATXN8OS, CACNA1A, KCND3, PPP2R2B, TBP genes)
    • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DORTMUND
    • Accreditation
    • Molecular diagnosis of spinocerebellar ataxia type 19/22 (KCND3 gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 13, 17, 19 and 23 (ATXN1-3, ATXN7, CACNA1A, KCNC3, KCND3, MTATP6, PDYN, PRKCG, TBP genes)
    • Institut für Humangenetik des UKGM am Standort Gießen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hessen
    • GIEßEN
    • Molecular diagnosis of spinocerebellar ataxias types 1, 2, 3, 5, 6, 7, 8, 11, 12, 17, 18, 19/22 (ATXN1, ATXN2, ATXN3, SPTBN2, CACNA1A, ATXN7, ATXN8, TTBK2, PPP2R2B, TBP, IFRD1, KCND3 genes)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of spinocerebellar ataxia type 19/22 (KCND3 gene / Complete sequencing)
    • IMEGEN - Instituto de Medicina Genómica
    • 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
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Diagnosis of dentatorubral pallidoluysian atrophy (ATN1 gene)
    • CHU de Poitiers
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : PCR based techniques
    • More information
    • FRANCE
    • POITOU-CHARENTES
    • POITIERS
    • Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
    • CHU de Poitiers
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : PCR based techniques
    • More information
    • FRANCE
    • POITOU-CHARENTES
    • POITIERS
    • Molecular diagnosis of spinocerebellar ataxia type 19 (KCND3 gene)
    • Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BADALONA