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15 Result(s)

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(15)
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(11)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2, CYP11B1, and HSD3B2 genes)
    • Medizinische Universität Innsbruck
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing, PCR based techniques, MLPA based techniques
    • More information
    • AUSTRIA
    • TIROL
    • INNSBRUCK
    • Accreditation
    • Molecular diagnosis of glucocorticoid resistance (NR3C1 gene)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Molecular diagnosis of Sex Determination For X-Linked Conditions For Disorders That Manifest Significantly Different In One Sex Compared To The Other by Targetted Mutation and Copy Number Analysis (Genes: AMELX, AMELY, SRY)
    • Liverpool Women's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • Accreditation
    • Molecular diagnosis of Glucocorticoid Resistance (NR3C1 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Diagnosis of steroids resistance syndrome (Panel)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Molecular diagnosis of glucocorticoid resistance (NR3C1 coding region sequencing)
    • NZOZ GENOMED
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Molecular diagnosis of glucocorticoid resistance (NR3C1 coding region sequencing)
    • MEDGEN
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Molecular diagnosis of glucocorticoid resistance (NR3C1 gene)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of glucocorticoid resistance (NR3C1 gene)
    • Hospital Universitario Cruces - Osakidetza
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Molecular diagnosis of Glucocorticoid resistance (NR3C1 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 glucocorticoid resistance (NR3C1 gene)
    • Centro de Diagnóstico Biomédico - CDB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of glucocorticoid resistance (NR3C1 gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Diagnosis of glucocorticoid resistance (NR3C1 gene)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • Molecular diagnosis of glucocorticoid resistance (NR3C1 gene)
    • Azienda Ospedaliera Universitaria di Parma
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • PARMA
    • Molecular diagnosis of glucocorticoid resistance (NR3C1 gene sequencing)
    • "Aghia Sophia" Children's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GREECE
    • ATTIKI
    • ATHENS