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Caption : Accreditation =Accreditation
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UNITED KINGDOM

Avon
BRISTOL

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

GERMANY

Baden-Württemberg
MANNHEIM

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

GERMANY

Nordrhein-Westfalen
KÖLN

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

FRANCE

RHONE-ALPES
GRENOBLE

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

NORWAY

Vestlandet
BERGEN

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

FRANCE

RHONE-ALPES
GRENOBLE

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)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

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