GJA1 - oculo-dento-digital dysplasia
This test is available for the following conditions:
- Conditions > Skeletal > Oculodentodigital dysplasia (ODDD)
- Conditions > Vision impairment / blindness > Oculodentodigital dysplasia (ODDD)
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES orofacial clefting (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
- WES vision disorders (% *)
* % 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:
121014
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane