Oculopharyngeal Muscular Dystrophy (OPMD)

Tests Available

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


  1. Anvar et al. (2011) Deregulation of the ubiquitin-proteasome system in the predominant molecular pathology in OPMD animal models and patients. Skelet Muscle 1:15.
  2. Askanas et al. (1995) New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Curr Opin Rheumatol. 7:486-96.
  3. Becher et al. (2001) Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. JAMA 286:2437-40.
  4. Blumen et al. Epidemiology and inheritance of oculophyaryngeal muscular dystrophy in Israel. Neuromuscul Disord 6:S38-40.
  5. Brais et al. (1998) Short GCG expansion in the PABP3 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18:164-7.
  6. Trollet C, Gidaro T, Klein P, et al. Oculopharyngeal Muscular Dystrophy. 2001 Mar 8 [Updated 2014 Feb 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available