Southern Blot for Mitochondrial DNA Rearrangements
Purpose
Mitochondrial single, large-deletions are the cause of three classical mitochondrial diseases: multisystemic Kearn-Sayre syndrome (KSS), Progressive external ophthalmoplegia (PEO), and Pearson syndrome (PS).
Southern blot analysis of mtDNA reliably detects single large deletions, multiple deletions, or duplications in the mitochondrial genome that contribute to these diseases. Some features of a deletion/duplication in mitochondrial DNA are indistinguishable from features that are due to mtDNA sequence variants. To test for such sequence variants, please also order mtDNA whole genome sequencing.
CPT Codes
81465
Methodology
Southern Blot Assay
Turnaround Time
21 days
Specimen
Muscle or Blood