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Mitochondrial DNA Deletion / Duplication

OHSU Service Code:
102-8853
Lab Section:
Molecular Diagnostic Center
Synonyms:
CPEO; Kearns-Sayre Syndrome; Pearson Syndrome
Test Schedule:
As ordered
Specimen
Requirements:

100 mg muscle for CPEO and Kearns-Sayre syndrome; 6.0 mL whole blood in EDTA vacutainer tube, for Pearson. Please call the laboratory at 503-494-5400. For requisition slips.

Comments:
Includes DNA isolation, Southern blot analysis, and interpretation.