Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

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:
81408x1
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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