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PSAP Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PSAP
Disorders:
Clinical Utility:
  • 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
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
528
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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
  • 272.2: 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
  • 272.7: Lipidoses (Fabry Disease)
* 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.

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