Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

ARSA Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ARSA
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
563
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81405x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 330.1: Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Harvey et al., (1998) Hum Mol Genet 7 :1215-1219.
  2. Gieselmann et al., (1994) Hum Mutat 4:233-242.
  3. Eng et al., (2003) Hum Mutat 22:418-9.
  4. Bertelli et al., (2006) J Clin Neurosci 13:442-448.
  5. Eng et al., (2004) Am J Med Genet A 128A:95-7.
  6. Biffi et al., (2008) Clin Genet 74:349-357.
  7. Grossi et al., (2008) Hum Mutat 29:E220-30.
  8. Fluharty, A. (Updated [Sept. 30, 2008]) Arylsulfatase A Deficiency. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org.

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