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Caption : Accreditation =Accreditation
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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Brachydactyly (BMPR1B, NOG, GDF5, IHH, HOXD13 and PTHLH gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation
Molecular diagnosis of multiple synostoses, proximal symphalangism and brachydactyly type B2 (NOG gene)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Post-natal molecular diagnosis of Brachydactyly type B2 (NOG gene: mutation screening by sequencing of entire coding region and dosage analysis by MLPA/QF-PCR/QMPSF)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technical procedure(s) : PCR based techniques, MLPA based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of brachydactyly type B2 (NOG gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of brachydactyly type A1, A2, B1, B2, C, D and E (BMPR1B, GDF5, HOXD13, IHH, NOG, PTHLH, ROR2 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation
Diagnosis of limb malformations (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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)

ITALY

LIGURIA
GENOVA

Molecular diagnosis of brachydactyly type E (HOXD13 gene)
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Poznan
POZNAN

Molecular diagnosis of brachydactyly type B2 (NOG gene: analysis of the coding region)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Brachydactyly (ROR2 and NOG genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of brachydactyly type B2 (NOG gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of brachydactyly type B2 (NOG gene)
Bioarray
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

Molecular diagnosis of brachydactyly (IHH, BMPR1B, BMP2, ROR2, NOG, GDF5, HOXD13 and PTHLH genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics