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ARSB Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ARSB
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
565
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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

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