ACTA1 Gene Sequencing & NEB Mutation Analysis

Forms and Documents

Test Details

ACTA1, NEB
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

551
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots

Billing

81400x1, 81479x1
No
Yes
  • 359 Muscular dystrophies and other myopathies Excludes: idiopathic polymyositis (710.4)
* 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.