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9 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(8)
(2)
(2)
(7)
(1)
Technique(s)
(6)
(1)
Purpose(s)
(2)
(9)
(1)
Quality management
(4)
(2)
Country(ies)
(1)
(5)
(2)
(1)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of albinism (GPR143, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1 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) : NGS sequencing (except WES)
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Griscelli syndrome (MYO5A, RAB27A genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular analysis of Griscelli disease (MLPH. MYO5A, RAB27A gene)
    • Pränatalmedizin München
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Griscelli syndrome (MYO5A, RAB27A genes)
    • DRK Baden-Württemberg/ Hessen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Molecular diagnosis of Griscelli syndrome (RAB27A, MYO5A genes)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Prenatal and postnatal molecular diagnosis of Griscelli disease (RAB27A and MYO5A genes)
    • Acibadem healthcare group
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Electron microscopic diagnosis of hypopigmentation of the skin (focus on OCA, Griscelli disease, Hermansky-Pudlak syndrome)
    • Universitäts-Hautklinik Heidelberg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Diagnosis of Griscelli disease type 3 (MLPH gene)
    • Laboratorio de Genética Clínica, S.L.
    • 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
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Diagnosis of lethal acantholytic epidermolysis bullosa (DSP, JUP genes)
    • Laboratorio de Genética Clínica, S.L.
    • 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
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES