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Nemaline Myopathy

Nemaline myopathy (NM) is a disorder characterized by muscle weakness, depressed/absent deep tendon reflexes and the presence of rod-shaped structures in muscle cells. Clinical expression is variable and ranges from congenital muscle weakness and hypotonia to mild skeletal myopathy of childhood or adult onset. The distribution of weakness is typically proximal, with variable involvement of [...]

+ Mutation-specific testing   + Prenatal testing

Nemaline myopathy (NM) is a disorder characterized by muscle weakness, depressed/absent deep tendon reflexes and the presence of rod-shaped structures in muscle cells. Clinical expression is variable and ranges from congenital muscle weakness and hypotonia to mild skeletal myopathy of childhood or adult onset. The distribution of weakness is typically proximal, with variable involvement of the facial, bulbar, and respiratory muscles. Many affected infants have feeding difficulties and about 25-40% of infants with congenital NM die, often from respiratory failure. In those who survive the first few years or those with late onset of symptoms, muscle weakness often stabilizes or is slowly progressive. Few patients display a cardiac phenotype. The majority of patients with a mutation in the NEB gene have the typical congenital form of NM. The NEB gene encodes the nebulin protein, which is a component of the skeletal muscle. Creatine kinase levels in NM are normal to mildly elevated. The incidence of NM is 1:50,000 live births, although it is higher in patients with Ashkenazi Jewish ancestry, due to a founder mutation in the NEB gene.

+ Mutation-specific testing   + Prenatal testing

Tests Available

ACTA1 Gene Sequencing & NEB Mutation Analysis

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ACTA1, NEB
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:
81479x1
List Price:
$1,175.00
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

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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