Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Nemaline Myopathy

Nemaline Myopathy

Test Description:
Nemaline myopathy (NM) is a neuromuscular disorder characterized by muscle weakness and the presence of rod-shaped structures (nemaline bodies or rods) in affected muscle fibers. The typical, and most common, form of NM is characterized by the infantile onset of a slowly progressive or non-progressive weakness of facial, bulbar, and respiratory muscles and neck flexors. Weakness initially is primarily proximal with later distal involvement. The typical form of NM is most often autosomal recessive and the result of mutations in the NEB gene. The overall incidence of NM is estimated to be is 2/100,000 live births; however a founder mutation in NEB (p.R2478_D2512del) has been identified in the Ashkenazi Jewish population. The carrier frequency for this mutation in this population is estimated to be 1 in 168. Testing for this mutation is expected to detect at least 95% of Ashkenazi Jewish carriers of NM. Carrier screening for NM may be considered for individuals of Eastern European (Ashkenazi) Jewish ancestry before/during pregnancy.

1. Anderson SL. et al., (2004) Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Hum Genet. Aug;115(3):185-90.
2. Pelin K. et al., (1999) Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A. Mar 2;96(5):2305-10.
3. Sanoudou D, Beggs AH (2001) Clinical and genetic heterogeneity in nemaline myopathy—a disease of skeletal muscle thin filaments. Trends Mol Med 7:362–368.
4. Wallgren-Pettersson C (1990) Congenital nemaline myopathy: a longitudinal study. Commentationes Physico-Mathematicae 111:1–102.
5. Scott, S.A., Edelmann, L., Liu, L., Luo, M., Desnick, R.J. and Kornreich, R. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish Genetic Diseases. Hum. Mutat. 31:1-11, 2010.

Specimen Requirements:
Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 83891, 83892x2, 83900, 83912, 83914

Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]

Additional Information: Jewish Genetic Screening Brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Test Panel

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.