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20 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Blackfan-Diamond Syndrome (RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24 and RPS26 gene)
    • VUmc - VU medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of thrombocytopenias (ADAMTS13, GATA1, GP1BA, GP1BB, GP9, MASTL, MYH9, RUNX1, WAS genes: NGS Screening Panel)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular Diagnosis of Diamond-Blackfan anaemia (RPS19 gene sequencing)
    • Sheffield Children's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Blackfan-Diamond anemia (RPS19, RPL5, RPL35A, RPL11, RPS26, RPS10, RPS24, RPS17, RPS7 genes)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of Blackfan-Diamond anemia (RPL5, RPL11, RPL35A, RPS17, RPS19, RPS26)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Blackfan-Diamond anemia (RPS19, RPS24 genes)
    • DRK Baden-Württemberg/ Hessen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Molecular diagnosis of Blackfan-Diamond disease (sequencing of coding and flanking sequences of RPS10, RPS17, RPS19, RPS24, RPS26, RPL5, RPL11, RPL35a, RPL15 and GATA1 genes)
    • CHU Paris - Hôpital Robert Debré
    • Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, Whole Exome Sequencing (WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Blackfan-Diamond anemia (RPS19, RPS24, RPL5, RPL11, RPL35A, RPS10, RPS17 and RPS26 genes): sequencing of the entire coding region
    • Hosp. Pediátrico e Hosp. Covões - Centro Hospitalar e Universitário de Coimbra
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • CENTRO
    • COIMBRA
    • Molecular diagnosis of anemia congenital hypoplastic, Blackfan-Diamond type (RPS19 gene)
    • Laboratorio Genoma
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of Blackfan-Diamond disease (RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17, RPS7 genes)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of Blackfan-Diamond anemia (RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26 genes / entire coding sequence)
    • 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
    • Molecular diagnosis of Blackfan-Diamond anemia (RPS24, RPL35A, RPL11 genes: 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
    • Diagnosis of Blackfan-Diamond anemia (GATA1, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7 genes)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • Molecular diagnosis of Blackfan-Diamond anemia (RPS19 gene)
    • Zentrum für Kinder- und Jugendmedizin Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of Blackfan-Diamond anemia (RPL5, RPS19 genes)
    • Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Molecular diagnosis of Blackfan-Diamond disease (RPS19, RPS24, RPS17, RPS26, RPS10, RPL5, RPL11, RPL 35A gene sequencing)
    • Schneider Children's Medical Center of Israel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • PETAH TIKVA
    • Molecular diagnosis of Blackfan-Diamond disease (RPS19 gene)
    • Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Diagnosis of Blackfan-Diamond disease (RPS19, RPL5, RPL11, RPL35A, RPS24, RPS17, RPS26, RPS10, RPS7 genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Somatic genetics, Risk assessment
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of Blackfan-Diamond disease (sequencing of RPS19, RPS26, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7 and RPS10 genes)
    • Genyca Innova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MAJADAHONDA
    • Molecular diagnosis of Blackfan-Diamond disease (RPL5 gene: sequencing)
    • Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Lodz
    • LODZ