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Test Code 6058

Oculopharyngeal Muscular Dystrophy via the PABPN1 (GCN) Repeat Expansion

PABPN1

1 - 2 weeks (6 - 10 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of oculopharyngeal muscular dystrophy (OPMD)
  • Individuals with symptom onset between 40-60 years of age
  • Individuals of French-Canadian or Bukharan Jewish descent
  • Individuals with a family history of OPMD
Method
Expansion Assay
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

OTHER OPTIONS
for pricing.

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