KAT6B - Ohdo syndrome, SBBYSS variant
This test is available for the following conditions:
- Conditions > Intellectual Disability > Ohdo syndrome
- Conditions > Multiple congenital anomalies (MCA) > Ohdo syndrome
This product is also part of the following panels:
- WES congenital heartdisease ¹ (% *)
- WES craniofacial anomalies (% *)
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
* % 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:
605880
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane