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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
Technique(s) : Sanger sequencing

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
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Diagnosis of distal arthrogryposis (Panel)
CHU de Grenoble site Nord - Institut de biologie et de pathologie
Purpose(s) : Antenatal diagnosis, 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
Technique(s) : NGS sequencing (except WES), 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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of distal arthrogryposis (CHST14, PIEZO2, TPM2, MYH3, TNNI2, and TNNT3 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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

FINLAND

Finland
UNIVERSITY OF TAMPERE

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
Technique(s) : Sanger sequencing