Acid Sphingomyelinase

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation(s)

Ordering

2631
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81330x1
No
Yes
  • 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
For price inquiries please email zebras@genedx.com

*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.

References

  1. Simonaro CM, Park J-H, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH (2006). Am J Hum Genet 78:865-70;
  2. Sikora J, PavluPereira H, Elleder M, Roelofs H, Wevers RA (2003). Annals of Human Genetics 67:63-70
  3. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH (2002. Am J Hum Genet 71:1413-9
  4. Fernandez-Burriel M, Pena L, Ramos JC, Cabrera JC, Marti M, Rodriguez-Quinones F, Chabas A (2003). Clin Genet 63(3):235-6
  5. McGovern MM, Schuchman EH (Updated 12-06-2006) Acid sphingomyelinase deficiency, In: GeneReviews at GeneTests: Medical Genetics Information Resource (databse online)