HEXA Gene Sequencing

Forms and Documents

Test Details

HEXA
  • 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
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

519
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81406x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
* For price inquiries please email zebras@genedx.com

References

  1. 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.
  2. Maegawa et al., (2006) Pediatrics 118:e1550-e1562.
  3. Giraud et al., (2010) Biochem Biophys Res Commun 392:599-602.
  4. Montalvo et al., (2005) Hum Mutat 26:282.
  5. Park et al., (2010) Pediatr Res 67:217-20.
  6. Myerowitz, R. And Hogikyan, N. (1986) Science 232:1646-1648.
  7. Hechtman et al., (1992) Hum Genet 90:402-406.
  8. Triggs-Raine et al., (1990) N Engl J Med 323:6-12.
  9. Akerman et al., (1992) Hum Mutat 1:303-309.
  10. Cao et al., (1997) J Biol Chem 272:14975- 14982.
  11. Braekeleer et al., (1992) Hum Genet 89:83-87.