Coffin-Siris syndrome

ARID1B - Coffin-Siris syndrome

This test is available for the following conditions:

• Conditions > Intellectual Disability > Coffin-Siris syndrome
• Conditions > Multiple congenital anomalies (MCA) > Coffin-Siris syndrome

This product is also part of the following panels:

• Epilepsy 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: 614556
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---