Forms and Documents
- Confirmation of a clinical diagnosis
- Development of an appropriate management plan
- Prenatal diagnosis in families with a defined mutation
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 743.5 Congenital anomalies of posterior segment
- 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
**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.
- McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM. Mutational analysis of patients with the diagnosis of choroideremia. Hum Mutat. 2002 Sep;20(3):189-96.
- Smaoui N, T.L. McGee, N. Nwokekeh, C.Weigel-DiFranco, B. Rosner, J.F. Hejtmancik, E.L. Berson Mutation Spectrum of the CHM Gene in Patients With Choroideremia. ARVO May 6-10, 2007 Fort Lauderdale, Florida.
- Genetic Diseases of the Eye. Ed. Elias I. Traboulsi. New York and Oxford: Oxford University Press, 1998.
- Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH (1990) Cloning of a gene that is rearranged in patients with choroideraemia. Nature 347:674-7.