Forms and Documents
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
- 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)
*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.
- Adams, D. and Gahl, W. (Updated [July 3, 2008]) Free Sialic Acid Storage Disorders. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.gen
- Landau et al., (2004) Mol Genet Metab 82 :167- 172.
- Aula et al., (2000) Am J Hum Genet 67 :832-840.
- Froissart et al., (2005) J Med Genet 42 :829-836.