Mitochondrial DNA (mtDNA) analysis is essential for diagnosing disorders linked to mitochondrial dysfunction, which can affect multiple body systems, especially those requiring high energy, such as muscles and the nervous system. This test is recommended when symptoms suggest mitochondrial diseases like muscle weakness, neurological issues, 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 issues.
Test Selection:
- Targeted mutation analysis is used if a specific familial mutation is known.
- Full mtDNA sequencing is conducted when the disorder is suspected, but the mutation is unknown.