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NEB Exon 55 Deletion

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
NEB
Disorders:
Clinical Utility:
  • Confirmation of clinical diagnosis
  • Determination of inheritance pattern of NM in a new Ashkenazi Jewish patient (a sporadic autosomal dominant ACTA1 mutation versus two inherited nebulin recessive mutations)
  • Carrier testing in unaffected family members
  • Recurrence risk calculation
  • Prenatal diagnosis for couples with known mutations
Lab Method:
Long Range PCR

ORDERING

Test Code:
245
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81400x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View 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. Lehtokari VL et Al., (2009) Neuromuscul Disord 19(3):179-81
  3. Laing NG, et Al., (2009) Hum Mutat. 30(9):1267-77
  4. McElhinny AS, et Al., (2005) J Cell Biol 170: 947-957
  5. Ilkowski B, et Al., (2005) Neuromuscul Disord. 15:829:835
  6. Anderson S et Al., (2004) Hum Genet. 115: 185-90, 2004
  7. Agrawal PB, et Al., (2004) Ann Neurol. 2004; 56: 86–96
  8. Ryan MM, et Al., (2001) Ann Neurol. 50:312:320
  9. North KN, et Al., (1997) J Med Genet. 34:705-713
  10. Wallgren-Peterson C, et Al. (1990) Neuromusc Disord 9:564:572
  11. Wallgren-Pettersson C et Al., (2004) Neuromuscular Disord. 14: 461-70

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