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10 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(10)
(2)
Technique(s)
(1)
Purpose(s)
(10)
Quality management
(3)
(7)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Molecular diagnosis of congenital heart defects (ACTC1, ACVR2B, CFC1, CITED2, CRELD1, ELN, FLNA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, IRX4, JAG1, LEFTY2, MED13L, MYH6, MYH7, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, RBM10, SMAD6, TBX20, TBX5, TFAP2B, TLL1, ZFPM2, ZIC3 genes)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Congenital Heart Defects (multigene panel; 35 genes)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of supravalvular aortic stenosis by sequencing of the entire coding region (ELN gene)
    • Southmead Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Avon
    • BRISTOL
    • Accreditation
    • Molecular diagnosis of supravalvular aortic stenosis (ELN gene)
    • Humangenetisches Institut am Universitätsklinikum Erlangen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • ERLANGEN
    • Molecular diagnosis of supravalvular aortic stenosis (ELN gene)
    • CHU de Poitiers
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • POITOU-CHARENTES
    • POITIERS
    • Molecular diagnosis of supravalvular aortic stenosis (ELN gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of supravalvular aortic stenosis (ELN gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Postnatal molecular diagnosis of supravalvular aortic stenosis (sequence analysis of the entire coding region of ELN gene)
    • 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 congenital heart defects : search for mutations of ZIC3, NKX2-5, NKX2-6, GATA4, ELN genes
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Molecular diagnosis of supravalvular aortic stenosis (sequencing of ELN gene)
    • Genyca Innova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MAJADAHONDA