Test Code 1253
Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene
DNA2
N/A
Who is this test for? | Candidates for this test include patients with adPEO, particularly when sequencing of the C10orf2, POLG, POLG2, and RRM2B genes has not revealed any probable causative variants. Testing is also indicated for family members of patients who have known pathogenic variants in DNA2. |
Method | Sanger Sequencing |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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