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10 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(10)
(1)
Purpose(s)
(10)
Quality management
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(8)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Molecular diagnosis of Familial Cold Autoinflammatory Syndrome type 1, 2 and 3 (NLRP3, NLRP12 and PLCG2 gene)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of NLRP12-associated hereditary periodic fever syndrome (NLRP12 gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular Diagnosis of Autoinflammatory Disease/Recurrent Fever Syndrome NGS Panel (15 genes plus TMEM173, NLRC4)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Molecular diagnosis of NLRP12-associated hereditary periodic fever syndrome (NLRP12 gene)
    • Institut für Laboratoriumsmedizin und Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • SINGEN /HTWL.
    • Accreditation
    • Molecular diagnosis of hereditary recurrent fevers (MEFV, MVK, NLRP3, NLRP12 and TNFRSF1A genes)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of NLRP12-associated hereditary periodic fever syndrome (NLRP12 gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of NALP12-associated hereditary periodic fever syndrome (NLRP12 gene)
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular diagnosis of NALP12-associated hereditary periodic fever syndrome (NLRP12 gene: entire coding region sequencing)
    • CHRU de Montpellier - Hôpital Arnaud de Villeneuve
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • MONTPELLIER
    • Molecular diagnosis of Periodic Fever syndrome (NLRP3, NLRP12, ELANE, HAX1, MVK, LPIN2, MEFV, PSTPIP1, TNFRSF1A genes) Next-generation sequencing
    • Biomedicum Helsinki 2U
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FINLAND
    • Finland
    • HELSINKI
    • Molecular diagnosis of hereditary periodic fever syndrome (NLRP3 and NLRP12 gene)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA