Forms and Documents
- Confirmation of biochemical diagnosis especially in those with borderline enzyme activity
- Full sequence analysis for non-Jewish partners of individuals who are known to be a mutation carrier
- 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.
- Kaback, M. (Updated [May 19, 2006]) Hexosaminidase A Deficiency In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2007. Available at http://www.genetests.org.
- Maegawa et al., (2006) Pediatrics 118:e1550-e1562.
- Giraud et al., (2010) Biochem Biophys Res Commun 392:599-602.
- Montalvo et al., (2005) Hum Mutat 26:282.
- Park et al., (2010) Pediatr Res 67:217-20.
- Myerowitz, R. And Hogikyan, N. (1986) Science 232:1646-1648.
- Hechtman et al., (1992) Hum Genet 90:402-406.
- Triggs-Raine et al., (1990) N Engl J Med 323:6-12.
- Akerman et al., (1992) Hum Mutat 1:303-309.
- Cao et al., (1997) J Biol Chem 272:14975- 14982.
- Braekeleer et al., (1992) Hum Genet 89:83-87.