NL
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
MED12 - X-linked Ohdo syndrome
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:
- Craniofacial anomalies panel with genome wide CNV analysis
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Skin disorders panel¹
- Tall stature panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
300188
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
