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38 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(33)
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Technique(s)
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Purpose(s)
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(38)
Quality management
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(19)
Country(ies)
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RESET
Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Molecular Cytogenetic diagnosis of Xp21 microdeletion syndrome (by FISH of NR0B1)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • Technical procedure(s) : FISH
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of X-linked congenital adrenal hypoplasia (NR0B1 gene)
    • Universitätsklinikum Ulm
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Accreditation
    • Molecular cytogenetic diagnosis of congenital adrenal hypoplasia (DAX1 gene, Xp21, by FISH analysis)
    • St Mary's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Technical procedure(s) : FISH
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Molecular diagnosis of Congenital Adrenal Hypoplasia (DAX1 gene)
    • LUMC - Leids Universitair Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • LEIDEN
    • Accreditation
    • Molecular diagnosis of X-linked Congenital Adrenal Hypoplasia (NR0B1 gene)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of X-linked congenital adrenal hypoplasia (NR0B1 gene)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of X-linked congenital adrenal hypoplasia (NR0B1 gene)
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of Cytomegalic congenital adrenal hypoplasia (DAX1 gene: full mutation analysis and MLPA)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: Targetted mutation analysis / Testing for known mutations in family members)
    • St George's University of London
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of cytomegalic congenital adrenal hypoplasia (NR0B1 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 X-linked congenital adrenal hypoplasia (NR0B1 gene: sequencing)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis / Testing for known mutations in family members)
    • St James's University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
    • More information
    • UNITED KINGDOM
    • West Yorkshire
    • LEEDS
    • Accreditation
    • Molecular diagnosis of adrenal congenital hypoplasia (NR0B1 gene)
    • Laboratorio Genoma
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of adrenal hypoplasia congenital (DAX1 gene)
    • Ospedale Regionale per le Microcitemie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Molecular diagnosis of congenital adrenal insufficiency due to adrenal hypoplasia (NR0B1 gene)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of gonadal dysgenesis (DMRT1, SRY, NR5A1, RSPO1, MAMLD1, MAP3K1, WT1, HSD17B3, AKR1C2, CYB5A, GATA4, WWOX, ZFPM2 genes and duplication of NR0B1 and DHH genes; NGS)
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Molecular diagnosis of X-linked congenital adrenal hypoplasia (NR0B1 gene)
    • Helmholtz Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of cytomegalic congenital adrenal hypoplasia (NR0B1 gene)
    • Hospital Universitario Cruces - Osakidetza
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Molecular diagnosis of congenital adrenal insufficiency due to adrenal hypoplasia (NR0B1 gene)
    • Oslo University Hospital, Ullevaal
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NORWAY
    • Østlandet
    • OSLO
    • Molecular diagnosis of idiopathic hypogonadotropic hypogonadism and adrenal hypoplasia congenital (NR0B1 gene): sequence analysis of the entire coding region
    • Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • SUL
    • LISBOA
    • Molecular diagnosis of X-linked congenital adrenal hypoplasia (NR0B1 gene)
    • bio.logis Zentrum für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Molecular diagnosis of cytomegalic congenital adrenal hypoplasia (NR0B1 gene / MLPA, 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) : MLPA based techniques
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of cytomegalic congenital adrenal hypoplasia (NR0B1 gene: sequencing, MLPA)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Diagnosis of cytomegalic congenital adrenal hypoplasia (NR0B1 gene)
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Molecular diagnosis of X-linked adrenal hypoplasia congenital (NR0B1 gene)
    • CHRU de Montpellier - Hôpital Lapeyronie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • MONTPELLIER
    • Diagnostics and monitoring of steroid related disorders by gas chromatography-mass spectrometry or liquid chromatography-tandem mass spectrometry (steroid metabolomics)
    • Kinderklinik des UKGM am Standort Gießen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Hessen
    • GIEßEN
    • Molecular diagnosis of adrenal hypoplasia congenital (NR0B1 gene)
    • Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Immunological diagnosis of X-linked adrenal hypoplasia congenital (serum cortisol immunoassay)
    • Bon Secours Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • IRELAND
    • County Cork
    • CORK
    • Immunological diagnosis of X-linked adrenal hypoplasia congenital (serum cortisol immunoassay)
    • Mercy Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • IRELAND
    • County Cork
    • CORK
    • Molecular diagnosis of adrenal hypoplasia congenital (DAX1 gene)
    • Policlinico S. Orsola-Malpighi - Area S. Orsola
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • BOLOGNA
    • Molecular diagnosis of male infertility with normal virilisation due to acquired testicular defect associated with mycoplasma infection
    • BIOAESIS
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • MARCHE
    • JESI
    • Molecular diagnosis of congenital adrenal insufficiency due to adrenal hypoplasia (NR0B1 gene)
    • Instytut "Pomnik-Centrum Zdrowia Dziecka"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Molecular diagnosis of congenital adrenal hypoplasia (NR0B1 gene sequencing)
    • "Aghia Sophia" Children's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Molecular diagnosis of cytomegalic congenital adrenal hypoplasia (NR0B1 gene)
    • INCLIVA
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • VALENCIA
    • Molecular diagnosis of congenital adrenal hypoplasia (NR0B1 gene)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of male infertility due to Y chromosome deletions (AZF)
    • Institut National d'Hygiène
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • More information
    • MOROCCO
    • Rabat
    • RABAT
    • Molecular diagnosis of idiopathic hypogonadotropic hypogonadism and adrenal hypoplasia congenital (NR0B1 gene: complete sequencing)
    • Centre Hospitalier Universitaire Vaudois CHUV
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE