In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
ARSB Gene Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
- Lab Method:
- Capillary Sequencing Reflex to Exon Array
- Test Code:
- Turnaround Time:
- 4-5 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- Alternative Specimen:
- Oral Rinse (30-40 mL), Dried Blood Spots
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 330.1: Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
- Petry et al., (2005) J Inherit Metab Dis 28:1027-1034.
- Arlt et al., (1994) J Biol Chem 269:9638-9643.
- Villani et al., (2010) Genet Test Mol Biomarkers 14:113-120.
- Garrido et al., (2007) Mol Genet Metab 92:122-130.
- Karageorgos et al., (2007) Hum Mutat 28:897-903.
- 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