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GERMANY

Bayern
WÜRZBURG

Accreditation
Molecular diagnosis of brachydactyly type A1, A2, B, C, D and E (BMPR1B, GDF5, HOXD13, IHH, PTHLH and ROR2 genes)
Universität Würzburg - Biozentrum
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
Molecular diagnosis of brachydactyly type B and Robinow syndrome (ROR2 gene)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Brachydactyly type B (ROR2 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Brachydactyly type B1 (ROR2 gene)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of brachydactyly type B (ROR2 gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of skeletal dysplasia (APEX and sequencing: FGFR3, FGFR2, COL2A1, SLC26A2, ALPL, ROR2, ESCO2, CHST3 and SOX9 genes)
Asper Biotech Ltd.
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 B (ROR2 gene: analysis of the coding region)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of brachydactyly type B (ROR2 gene)
Sistemas Genómicos S.L.
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

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