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34 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Diagnosis of storage pool platelet disease
    • CHU de Marseille - Hôpital de la Timone
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Hematology
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Accreditation
    • Diagnosis of storage pool platelet disease
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Hematology
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Accreditation
    • Molecular diagnosis of oculocutaneous albinism type 1, 2 and 4 (OCA2, SLC45A2, TYR genes)
    • Universitätsklinikum Schleswig-Holstein - Campus Lübeck
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • Accreditation
    • Molecular diagnosis of oculocutaneous albinism type 2 (OCA gene)
    • Center for Medical Genetics Ghent
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Accreditation
    • Molecular diagnosis of Oculocutaneous Albinism type 2 (P gene)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • 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
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of oculocutaneous albinism type 1-4, 7 (C10ORF11, MC1R, OCA2, SLC45A2, TYR, TYRP1 genes: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of oculocutaneous albinism type 1-3 (OCA2, TYR, TYRP1 genes: sequencing / MLPA)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of oculocutaneous albinism type 1-4 (MC1R, OCA2, SLC45A2, TYR and TYRP1)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of oculocutaneous albinism type 1-4 (MC1R, OCA2, SLC45A2, TYR and TYRP1)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of oculocutaneous albinism type 2 (OCA2 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 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
    • Diagnosis of storage pool platelet disease
    • CHU de Toulouse - Hôpital Purpan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Hematology
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Diagnosis of storage pool platelet disease
    • CHRU de Montpellier - Hôpital Saint-Eloi
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Hematology
    • More information
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • MONTPELLIER
    • Diagnosis of storage pool platelet disease
    • CHU Paris - Hôpital Robert Debré
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Hematology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of oculocutaneous albinism type 1 (TYR gene), type 2 (OCA2 gene), type 3 (TYRP1 gene), type 4 (SLC45A2 gene), type 6 (SLC24A5 gene), type 7 (C10ORF11 gene)
    • CHU de Bordeaux-GH Pellegrin
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Molecular diagnosis of Oculocutaneous albinism type 2. Amplification and acrylamide gel detection of deletion (2.7Kb) in the OCA2 gene. Complete sequencing of the gene
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Prenatal and postnatal molecular diagnosis of oculocutaneous albinism type 2 (OCA2 sequence anlaysis: carrier screening)
    • Kennedy Center
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • DENMARK
    • Sjælland
    • GLOSTRUP
    • Molecular diagnosis of oculocutaneous albinism type 2 (OCA2 gene / complete sequencing, MLPA)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of oculocutaneous albinism type 2 (OCA2 gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Somatic genetics
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of oculocutaneous albinism type 2 (OCA2 gene)
    • Fundación Jiménez Díaz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of oculocutaneous albinism type 2 (aCGH)
    • Genetadi Biotech S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • País Vasco
    • DERIO
    • Molecular diagnosis of oculocutaneous albinism type 1-4, 6 and 7 (OCA2, TYR genes: sequencing / MLPA; C10ORF11, SLC45A2, SLC24A5, TYRP1 genes: sequencing)
    • Gemeinschaftspraxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of oculocutaneous type 1, 2 or ocular albinism (TYR, OCA2, and GPR143 genes)
    • Medizinische Universität Wien
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of oculocutaneous albinism types 1 and 2 (TYR and OCA2 genes)
    • Medizinische Universität Wien
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of oculocutaneous albinism types 1 and 2 (TYR and OCA2 genes)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of oculocutaneous albinism type 2 (OCA2 gene / sequencing, real-time PCR)
    • GenoClinics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : PCR based techniques
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of oculocutaneous albinism (GPR143, MC1R, TYR, TYRP1, OCA2, SLC24A5, SLC45A2 genes / NGS sequencing)
    • DNA Data
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • País Vasco
    • SAN SEBASTIÁN
    • Diagnosis of storage pool platelet disease
    • CHU de Nancy - Hôpital de Brabois
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Hematology
    • More information
    • FRANCE
    • LORRAINE
    • VANDOEUVRE-LÈS-NANCY
    • Molecular and biochemical diagnosis of storage pool platelet disease (WAS gene)
    • IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • PUGLIA
    • SAN GIOVANNI ROTONDO
    • Molecular diagnosis of oculocutaneous albinism (TYR, TYRP1, OCA2, SLC45A2 genes)
    • Ospedale Niguarda Ca' Granda
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of oculocutaneous albinism (TYR, OCA2, TYRP1 and SLC45A2 genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • 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
    • Molecular diagnosis of oculocutaneous albinism types 1A, 1B and 2 (sequencing of TYR and OCA2 genes)
    • Genyca Innova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MAJADAHONDA