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19 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(17)
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Technique(s)
(12)
(4)
(1)
Purpose(s)
(19)
Quality management
(9)
(12)
Country(ies)
(3)
(10)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Pseudohypoparathyroidism (GNAS, STX16 genes)
    • Praxis Dr. Mato Nagel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Sachsen
    • WEIßWASSER
    • Accreditation
    • Molecular diagnosis of Pseudohypoparathyroidism (GNAS methylation, GNAS, STX16 deletions)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Methylation analysis, Deletion / Duplication analysis
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of pseudohypoparathyroidism Type 1 A (GNAS gene: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
    • Great Ormond Street Hospital for Children, York House
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of GNAS gene associated fibrous dysplasia and related disorders
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of pseudohypoparathyroidism (GNAS gene)
    • 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 diagnosis of pseudohypoparathyroidism (GNAS gene: sequencing, MLPA)
    • Labor Lademannbogen
    • Purpose(s) : 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
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of pseudohypoparathyroidism (GNAS gene)
    • Universitätsklinikum Schleswig-Holstein - Campus Kiel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Schleswig-Holstein
    • KIEL
    • Accreditation
    • Molecular diagnosis of GNAS gene associated fibrous dysplasia and related disorders
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of pseudohypoparathyroidism (GNAS gene: sequencing, MS-MLPA)
    • Institut für Laboratoriumsmedizin und Humangenetik
    • Purpose(s) : 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
    • GERMANY
    • Baden-Württemberg
    • SINGEN /HTWL.
    • Diagnosis of pseudohypoparathyroidism (GNAS and STX16 genes)
    • CHU de Caen - Hôpital Clémenceau
    • 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
    • FRANCE
    • BASSE-NORMANDIE
    • CAEN
    • Molecular diagnosis of pseudohypoparathyroidism type Ia and Ib (GNAS gene)
    • CHU de Marseille - Hôpital de la Conception
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Molecular diagnosis of pseudohypoparathyroidism (GNAS gene)
    • Hospital Universitario Cruces - Osakidetza
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Molecular diagnosis of pseudohypoparathyroidism (GNAS gene: sequencing, MS-MLPA)
    • Molekulargenetisches Labor der Gemeinschaftspraxis
    • Purpose(s) : 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
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Molecular diagnosis of pseudohypoparathyroidism (GNAS gene / complete sequencing)
    • 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, Whole Exome Sequencing (WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of pseudohypoparathyroidism (GNAS gene)
    • Gemeinschaftspraxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Diagnosis of hypoparathyroidism - deafness - renal disease (GATA3 gene: full sequencing, MLPA)
    • Haukeland University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • NORWAY
    • Vestlandet
    • BERGEN
    • Molecular diagnosis of pseudoparahypothyroidism and progressive osseous heteroplasia (GNAS gene; NGS)
    • CHU Paris Centre - Hôpital Cochin
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular Diagnosis of Albright hereditary osteodystrophy. Gene GNAS
    • HUA - Hospital Universitario Araba. Sede Txagorritxu
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • País Vasco
    • VITORIA-GASTEIZ
    • Biochemical and molecular diagnosis of pseudohypoparathyroidism (GNAS gene: sequencing, methylation status)
    • Universitätsklinikum Schleswig-Holstein - Campus Lübeck
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Analyte / Enzyme assay, Protein expression
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques, Immunohistochemistry
    • More information
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK