Mitochondrial DNA (mtDNA) analysis is critical for diagnosing disorders associated with mitochondrial dysfunction, which particularly affects high-energy systems such as the muscles and nervous system. It is recommended when symptoms suggestive of mitochondrial disease appear, such as muscle weakness, neurological problems or metabolic problems.
Conditions Diagnosed
- Leber's Hereditary Optic Neuropathy (LHON): Sudden vision loss.
- MELAS Syndrome: Stroke-like episodes and muscle weakness.
- MERRF Syndrome: Muscle weakness and seizures.
- Kearns-Sayre Syndrome (KSS): Progressive muscle weakness and eye problems.
Test Selection
- If the familial mutation is known, targeted mutation analysis is performed.
- If a disorder is suspected but the mutation is unknown, full mtDNA sequencing is performed.