Ohdo syndrome

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:

• Congenital heartdisease panel¹
• Craniofacial anomalies panel with genome wide CNV analysis
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders panel¹

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

---