PABPN1 Repeat Analysis

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Capillary Sequencing


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


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  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