Forms and Documents
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
**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.
- Petry et al., (2005) J Inherit Metab Dis 28:1027-1034.
- Arlt et al., (1994) J Biol Chem 269:9638-9643.
- Villani et al., (2010) Genet Test Mol Biomarkers 14:113-120.
- Garrido et al., (2007) Mol Genet Metab 92:122-130.
- Karageorgos et al., (2007) Hum Mutat 28:897-903.
- Valayannopoulos et al., (2010) Orphanet J Rare Dis 5:5. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2011 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf