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16 Result(s)

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Purpose(s)
(16)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Molecular diagnosis of Xeroderma pigmentosum (DDB1, ERCC2, ERCC3, ERCC4, ERCC5, XPA and XPC genes)
    • Universität Würzburg - Biozentrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • WÜRZBURG
    • Accreditation
    • Molecular diagnosis of xeroderma pigmentosum (XPA, XPB, XPC, XPD, XPE, XPF, XPG and POLH encoding genes: entire coding sequence)
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of xeroderma pigmentosum (XPA, ERCC2, POLH and XPC genes: entire coding region)
    • CHU de Bordeaux-GH Pellegrin
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Molecular diagnosis of xeroderma pigmentosum (DDB2, ERCC5, ERCC2, XPA and XPC genes)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of xeroderma pigmentosum complementation group A (XPA gene / sequencing)
    • GenoClinics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of xeroderma pigmentosum (XPA, XPC, ERCC2, ERCC3, ERCC4, ERCC5 and DDB2 genes)
    • Centro de Diagnóstico Biomédico - CDB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of xeroderma pigmentosum complementation group A (XPA gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Cell biology diagnosis of xeroderma pigmentosum
    • Azienda Ospedaliero Universitaria "Policlinico Vittorio Emanuele"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • ITALY
    • SICILIA
    • CATANIA
    • Molecular diagnosis of xeroderma pigmentosum
    • CNR
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • PAVIA
    • Cytogenetic diagnosis of xeroderma pigmentosum
    • Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size
    • Technical procedure(s) : Karyotyping
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • UDINE
    • Biochemical diagnosis of Xeroderma Pigmentosum (Analyte: DNA-repair Synthesis)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Molecular diagnosis of xeroderma pigmentosum (XPA, XPC, POLH, ERCC2, ERCC3, ERCC4, ERCC5 and DDB2 genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular and functional diagnosis of Xeroderma Pigmentosum (fibroblast function and XPA, XPB, XPC, XPD, XPE, XPF, XPG and POLH gene)
    • Erasmus MC - Erasmus Medisch Centrum
    • Purpose(s) : Post-natal diagnosis, Somatic genetics
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Cytogenetic diagnosis of chromosomal breakage syndromes
    • CHUQ - Hôpital Saint-Francois d'Assise
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Uniparental disomy study
    • More information
    • CANADA
    • Québec
    • QUÉBEC
    • Molecular diagnosis of xeroderma pigmentosum (XPC gene / c.1643_1644delTG mutation)
    • Institut National d'Hygiène
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • MOROCCO
    • Rabat
    • RABAT
    • Postnatal molecular diagnosis of xeroderma pigmentosum (sequence analysis of the entire coding region of DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC genes)
    • 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