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21 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(12)
(1)
(4)
Purpose(s)
(21)
Quality management
(12)
(18)
Country(ies)
(1)
(1)
(1)
(9)
(2)
(2)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Congenital Stationary Night Blindness (NYX and CACNA1F genes)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of congenital stationary night blindness (NGS panel: CABP4, CACNA1F, CHM, GNAT1, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1; APEX panel: RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F, CACNA2D4, GRK1, TRPM1)
    • Asper Biotech Ltd.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Accreditation
    • Molecular diagnosis of congenital stationary night blindness (GNAT1, NYX genes)
    • Universitätsklinikum Regensburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Accreditation
    • Molecular diagnosis of congenital stationary night blindness (CABP4, CACNA1F, GNAT1, GRM6, NYX, PDE6B, RHO and TRPM1 genes: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of congenital stationary night blindness (RHO gene)
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of Congenital Stationary Night Blindness (CABP4 and GPR179 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of cone- / cone rod dystrophies (ABCA4, ADAM9, AIPL1, CACNA2D4, CDHR1, CERKL, CNGB3, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RIMS1, RPGRIP1, SEMA4A, UNC119 genes - NGS Screening Panel)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of congenital stationary night blindness (CABP4, PDE6B, RHO genes)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of congenital stationary night blindness (NYX gene: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of congenital stationary night blindness (NGS Screening Panel - genes: CABP4, CACNA1F, GNAT1, GRK1, GRM6, NYX, PDE6B, RHO, SAG, TRPM1, SLC24A1, RDH5, GPR179)
    • Azienda Ospedaliero Universitaria Careggi
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Accreditation
    • Molecular diagnosis of congenital stationary night blindness (CABP4, CACNA1F, GNAT1, GRM6, NYX, PDE6B, RHO, SLC24A1 and TRPM1 genes)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of congenital stationary night blindness (NYX gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Molecular diagnosis of Congenital stationary night blindness: complete sequencing of NYX and GRM6 genes
    • Universität Zürich
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Molecular diagnosis of Congenital stationary night blindness, incomplete type (CSNB2): complete sequencing of CACNA1F and CABP4 genes
    • Universität Zürich
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Molecular diagnosis of congenital stationary night blindness (RHO, GNAT1, PDE6B, NYX, CACNA1F, GRM6, CABP4, TRPM1 genes)
    • Fundación Jiménez Díaz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of congenital stationary night blindness (RHO gene)
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Molecular Diagnosis of Congenital Stationary Night Blindness (CACNA1F c.3166 dup C targeted mutation analysis)
    • Alberta Children's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • More information
    • CANADA
    • Alberta
    • CALGARY
    • Postnatal molecular diagnosis of congenital stationary night blindness (sequence analysis of the entire coding region of CACNA1F and CACNA1B genes)
    • Istituto Auxologico Italiano
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • ITALY
    • LOMBARDIA
    • CUSANO MILANINO
    • Molecular diagnosis of congenital stationary night blindness (NGS Screening Panel - genes: CABP4, CACNA1F, CACNA2D4, GNAT1, GRK1, GRM6, NYX, PDE6B, RHO, SAG, TRPM1, SLC24A1)
    • Forschungsinstitut für Augenheilkunde
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Molecular diagnosis of cone- / cone rod dystrophies (NGS Screening Panel - genes: ABCA4, ADAM9, AIPL1, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PITPNM3, PROM1, PRPH2, RAX2, RGS9BP, RDH5, RGS9, RPGR, RPGRIP1, RIMS1, SEMA4A)
    • Forschungsinstitut für Augenheilkunde
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Molecular diagnosis of congenital stationary night blindness (RHO, GNAT1, PDE6B, TRPM1, GRM6, CABP4, SLC24A1, NYX and CACNA1F genes: entire coding sequence)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES