MITOCHONDRIAL DNA DELETION SYNDROME

MITOCHONDRIAL DNA DELETION ANALYSIS

Multisystemic disorders without a known etiology but consistent with a respiratory chain deficiency may be due to mitochondrial DNA deletion. This would include atypical Pearson syndrome, mild mitochondrial myopathy, progressive external ophthalmoplegia (PEO), atypical Kearns-Sayre syndrome, or multisystem dysfunction. The deletion is usually detectable in both blood and muscle. However, the deletion molecules in blood tend to be preferentially eliminated as the patients grow older. Therefore, a muscle specimen is usually recommended if the mtDNA deletion is not found in blood specimen.

Reasons for Referral:

To confirm the diagnosis of multisystemic mitochondrial DNA deletion syndrome.
Family history
Asymptomatic carrier testing if a specific mutation in the family is known

Testing Methodology:

Please refer to Mitochondrial DNA Screen (Point Mutations and Deletions)