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18 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Hermansky-Pudlak syndrome (AP3B1, BLOC1S3, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6 genes: NGS Screening Panel)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Hermansky-Pudlak syndrome type 2 (AP3B1 gene)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Hermansky-Pudlak syndrome type 1 and 5 (HPS1 and HPS5 genes)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Diagnosis of platelets disorders
    • Hôpitaux Universitaires de Genève HUG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Hematology
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Molecular diagnosis of Hermansky-Pudlak syndrome with neutropenia (AP3B1 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 Hemophagocytic Lymphohistiocytosis NGS Panel and Del/Dup Analysis (14 genes)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), Array based techniques
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Molecular diagnosis of albinism (NGS panel: AP3B1, BLOC1S3, BLOC1S6, C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP1)
    • 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 Hermansky-Pudlak syndrome type 2 (AP3B1 gene)
    • DRK Baden-Württemberg/ Hessen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Molecular diagnosis of Hermansky-Pudlak syndrome (DTNBP1, HPS1 and HPS3 genes)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of Hermansky-Pudlak syndrome with pulmonary fibrosis (HPS1 gene; NGS entire coding sequences)
    • CHU de Bordeaux-GH Pellegrin
    • 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
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Molecular diagnosis of Hermansky-Pudlak syndrome with neutropenia (AP3B1 gene / 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 Hermansky-Pudlak syndrome (HPS1, 2, 3, 4, and 7 genes)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Hermansky-Pudlak syndrome, type 1, 4, 5, 6, 7 and 8 (HPS1, HPS4, HPS5, HPS6, DTNBP1 and BLOC1S3 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 congenital deficiency of coagulation factors
    • Centre hospitalier Victor Dupouy
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Hematology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • ARGENTEUIL
    • Diagnosis of inherited bleeding disorders (hemophilia, von Willebrand disease and others rare bleeding disorders)
    • Blood Transfusion Institute of Serbia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Hematology
    • More information
    • SERBIA
    • Serbia
    • BELGRADE
    • Molecular diagnosis of Hermansky-Pudlak sydrome. HPS1, HPS2, HPS3, HPS4, HPS5 and HPS6 genes
    • Centro Nacional de Biotecnología (CNB-CSIC)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Diagnosis of Hermansky-Pudlak syndrome (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3 genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : Sanger sequencing
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • 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