In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and will resume our normal work schedule on Saturday, November 29, 2014. 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
- 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