ARSB Gene Sequencing

Forms and Documents

Test Details

ARSB
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

565
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81479x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
* For price inquiries please email zebras@genedx.com

References

  1. Petry et al., (2005) J Inherit Metab Dis 28:1027-1034.
  2. Arlt et al., (1994) J Biol Chem 269:9638-9643.
  3. Villani et al., (2010) Genet Test Mol Biomarkers 14:113-120.
  4. Garrido et al., (2007) Mol Genet Metab 92:122-130.
  5. Karageorgos et al., (2007) Hum Mutat 28:897-903.
  6. Valayannopoulos et al., (2010) Orphanet J Rare Dis 5:5. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2011 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf