Forms and Documents
- Confirmation of clinical diagnosis
- Recurrence risk estimation
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Nakamine, A. et al., Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet. 146A(5):636-643, 2008
- Dr. Sarah Elsea, personal communication, 2005
- Girirajan, S. et al., RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 42: 820-28, 2005
- Bi, W. et al., Mutations of RAI1, a PHD-containing protein, in non-deletion patients with Smith-Magenis syndrome. Hum Genet. 115: 515-24, 2004
- Slager, R.et al., Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 33: 466-68 2003
- Girirajan, S. et al., Genotype-phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med. 8: 417-27, 2006