NOG - brachydactylie type b2
This test is available for the following conditions:
- Conditions > Skeletal > Brachydactyly type b
This product is also part of the following panels:
- WES craniofacial anomalies (100.0% *)
- WES hearing impairment (including GJB2) (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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