Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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 zebras@genedx.com.

ACTA1 Gene Sequencing & NEB Mutation Analysis

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ACTA1, NEB
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
551
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x2
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 359: Congenital hereditary, muscular dystrophy, Benign congenital myopathy, Central core disease, Centronuclear myopathy, Myotubular myopathy, Nemaline body disease
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. North K & Ryan C, (2010) www.genereviews.org
  2. Laing NG, et al., (2009) Hum Mutat. 30(9):1267- 77
  3. Ilkowski B, et al., (2005) Neuromuscul Disord. 15:829:835
  4. Agrawal PB, et al., (2004) Ann Neurol. 2004; 56: 86– 96
  5. Anderson SL, et al., (2004) Hum Genet. 115: 185–90
  6. Ryan MM, et al., (2001) Ann Neurol. 50:312:320
  7. North KN, et al., (1997) J Med Genet. 34:705-713
  8. Wallgren-Peterson C, et Al. (1990) Neuromusc Disord 9:564:572.
  9. Wallgren-Pettersson C et Al., (2004) Neuromuscular Disord. 14: 461-70.
  10. Ilkowski B, et Al., (2005) Neuromuscul Disord. 15:829:835.
  11. McElhinny AS, et Al., (2005) J Cell Biol 170: 947-957.
  12. Laing NG, et Al., (2009) Hum Mutat. 30(9):1267-77.
  13. Lehtokari VL et Al., (2009) Neuromuscul Disord 19(3):179-81.

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