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 firstname.lastname@example.org.
HEXA Gene Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of biochemical diagnosis especially in those with borderline enzyme activity
- Full sequence analysis for non-Jewish partners of individuals who are known to be a mutation carrier
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
- Lab Method:
- Capillary Sequencing Reflex to Exon Array CGH
- Test Code:
- Turnaround Time:
- 4-5 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Neurology Billing Policy
- ICD Codes:
- 330.1: Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
- Kaback, M. (Updated [May 19, 2006]) Hexosaminidase A Deficiency In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2007. Available at http://www.genetests.org.
- Maegawa et al., (2006) Pediatrics 118:e1550-e1562.
- Giraud et al., (2010) Biochem Biophys Res Commun 392:599-602.
- Montalvo et al., (2005) Hum Mutat 26:282.
- Park et al., (2010) Pediatr Res 67:217-20.
- Myerowitz, R. And Hogikyan, N. (1986) Science 232:1646-1648.
- Hechtman et al., (1992) Hum Genet 90:402-406.
- Triggs-Raine et al., (1990) N Engl J Med 323:6-12.
- Akerman et al., (1992) Hum Mutat 1:303-309.
- Cao et al., (1997) J Biol Chem 272:14975- 14982.
- Braekeleer et al., (1992) Hum Genet 89:83-87.