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18 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(8)
(3)
(1)
(1)
(3)
Technique(s)
(1)
Purpose(s)
(1)
(17)
Quality management
(8)
(8)
Country(ies)
(2)
(1)
(7)
(1)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of CDG syndrome type 1A-C and 2C (ALG6, MPI, PMM2 and SLC35C1 genes)
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of CDG syndrome (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1, SLC35D1, TMEM165 genes: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Leukocyte adhesion deficiency type II (SLC35C1 gene)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of CDG syndrome type Ia-n and IIa, c-h (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, B4GALT1, COG1, COG7, COG8, DOLK, DPAGT1, DPM1, MGAT2 ,MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1 genes)
    • MVZ Fenner & Krasemann
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of CDG syndrome type 1A-C and 2C, E (ALG6, COG7, MPI, PMM2 and SLC35C1 genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of leukocyte adhesion deficiency type I (ITGB2 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 leukocyte adhesion deficiency type I (ITGB2 gene)
    • DRK Baden-Württemberg/ Hessen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Accreditation
    • Diagnosis of Leukocyte adhesion deficiency (LAD) (CD11a, CD11b, CD15, CD18 expression on lymphocytes)
    • Ghent University Hospital - UZGent
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Molecular diagnosis of leukocyte adhesion deficiency type III (FERMT gene)
    • Hospital Clínic i Provincial de Barcelona
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of leukocyte adhesion deficiency type I (ITGB2 gene)
    • Hospital Clínic i Provincial de Barcelona
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of Leukocyte adhesion deficiency type 1 (ITGB2 gene: 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
    • Molecular diagnosis of Leukocyte adhesion deficiency type II (SLC35C1 gene: 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
    • Molecular diagnosis of leukocyte adhesion deficiency type I (ITGB2 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
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of congenital disorders of glycosylation (panel)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Antenatal diagnosis of immunodeficiency with defective LFA1 by immunological methods
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Antenatal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of leukocyte adhesion deficiency type 1 (ITGB2 gene)
    • Azienda Ospedaliera Spedali Civili di Brescia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • BRESCIA
    • Immunological diagnosis of primary immunodeficiencies (PID) - Immunophenotyping including adhesion molecules
    • Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Immunochemical diagnosis of TLR signaling defect (cytokine production IL17, IL22, IFNg, IL12 upon stimulation with TLR ligands)
    • Ghent University Hospital - UZGent
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Protein expression
    • Technical procedure(s) : Immunohistochemistry
    • More information
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT