Forms and Documents
- Confirmation of a clinical diagnosis
- Carrier testing in unaffected family members
- Prenatal diagnosis in families with known mutation
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
- 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
**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.
- Millat et al., (2005) Mol Genet Metab 86:220-232
- Park et al., (2003) Hum Mut 22:313
- Verot et al., (2007) Clin Genet 71:320-30
- Sevin et al., (2007) Brain 130:120-133
- Fernandez-Valero et al., (2005) Clin Genet 68 :245-254