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.
- 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
- 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.
- Caciotti et al., (2011) Biochim Biophys Acta 1812 :782-790.
- Santamaria et al., (2006) Hum Mutat 27 :1060.
- Morrone et al., (2000) Hum Mutat 15 :354-366.
- Caciotti et al., (2005) Hum Mutat 25 :285-292.
- Santamaria et al., (2007) Clin Genet 71 :273-279.
- Hofer et al., (2010) Clin Genet 78 :236-246.
- Hofer et al., (2009) Hum Mutat 30 :1214-1221.
- Higaki et al., (2011) Hum Mutat 32 :843-852.
- Santamaria et al., (2007) J Lipid Res 48 :2275-82.