Test Coffin-Siris Syndrome Type 3
Description
- Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis.
- Genes:
- SMARCB1
- Disorders:
- Intellectual Disability
- Clinical Utility:
- Confirmation of a clinical diagnosis, Carrier testing in unaffected family members
Methods
- Description:
- Delivery Time:
- 10 days
- Sample:
- 2-5 Ml Venous Blood Sample / DNA sample
- Alternative:
- Description:
- Multiplex ligation-dependent probe amplification
- Delivery Time:
- 10 days
- Sample:
- 2-5 mL Blood - Lavender Top Tube
- Alternative:
- Ops!
- No files are available!