NOG - brachydactylie type b2
This test is available for the following conditions:
- Conditions > Skeletal > Brachydactyly type b
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602991
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ROR2 - autosomal dominant brachydactyly type B1
This test is available for the following conditions:
- Conditions > Skeletal > Brachydactyly type b
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Deletions/duplications are rare and can be detected with high resolution SNP array. This test can be requested seperately.
OMIM:
113000
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane