Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

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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