Skip to
  1. Homepage
  2. Diagnostic tests
  3. Search a test
Simple search

Simple search

*
(*) mandatory field


 

8 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(8)
(1)
(3)
(3)
Technique(s)
(3)
(2)
Purpose(s)
(1)
(8)
(1)
Quality management
(2)
(6)
Country(ies)
(1)
(2)
(2)
(1)
(1)
(1)
RESET
Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Distal Arthrogryposis (DA1A and DA2B) by sequencing the entire coding region (Gene: TMP2)
    • Southmead Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Avon
    • BRISTOL
    • Accreditation
    • Molecular diagnosis of distal arthrogryposis type 3 and 5 (PIEZO2 gene)
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Molecular diagnosis of distal arthrogryposis (MYBPC1, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM2 genes)
    • Institut für Humangenetik am Universitätsklinikum Köln
    • 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
    • GERMANY
    • Nordrhein-Westfalen
    • KÖLN
    • Molecular diagnosis of distal arthrogryposis (TNNI2, TNNT3, TPM2 and MYH3 gene)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Molecular diagnosis of arthrogryposis with oculomotor limitation and electroretinal anomalies (PIEZO2 gene: full sequencing)
    • Haukeland University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NORWAY
    • Vestlandet
    • BERGEN
    • Diagnosis of distal arthrogryposis (Panel)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Molecular diagnosis of Nemaline myopathy 4 (NEM4), CAP myopathy 2 (CAPM2), distal arthrogryposis types 1 and 2 (DA1A and DA2B) (TPM2 gene: sequencing of the coding region)
    • University of Tampere
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FINLAND
    • Finland
    • TAMPERE
    • Diagnosis of arthrogryposis with oculomotor limitation and electroretinal anomalies (PIEZO2 gene)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES