Test Beckwith-Wiedemann Syndrome
Description
- Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism.
- Genes:
- CDKN1C, ICR1, H19, KCNQ1OT1
- Disorders:
- Overgrowth
- 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:
- Delivery Time:
- 10 days
- Sample:
- 2-5 mL EDTA-Blood - Lavender Top Tube
- Alternative:
- Ops!
- No files are available!