PSAP Gene Sequencing

Forms and Documents

Test Details

PSAP
  • Confirmation of biochemical diagnosis
  • Testing of patients with the phenotype of metachromatic leukodystrophy, Gaucher disease or Krabbe disease without the characteristic in vitro enzyme deficiency.
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

528
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81479x1
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)
  • 330.0 Leukodystrophy
  • 272.7 Lipidoses (Fabry Disease)
  • 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

References

  1. Diaz-Font et al., (2005) Hum Genet 117:275- 277.
  2. Henseler et al., (1996) Am J Hum Genet 58:65-74.
  3. Kretz et al., (1990) Proc Natl Acad Sci 87:2541-2544.
  4. Regis et al., (1999) Eur J Hum Genet 7:125-130.
  5. Wrobe et al., (2000) J Inherit Metab Dis 23:64-76.
  6. Tylki-Szymanska et al., (2007) Clin Genet 72:538-542.
  7. Hulkova et al., (2001) Hum Mol Genet 10:927-940.
  8. Kuchar et al., (2009) Am J Med Genet A 149A:613-21.
  9. Schnabel et al., (1992) J Biol Chem 267:3312-5.
  10. Spiegel et al., (2005) Mol Genet Metab 84:160-166.
  11. Zuhair et al., (2009) J Child Neurol 24:1513-1519.
  12. Vaccaro et al., (2010) Hum Mol Genet 19:2987-2997.
  13. Fernandes J. (2006). Inborn Metabolic Diseases. Heidelberg, Germany: Springer Medizin Verlag.