Mitochondrial Disorders (mtDNA) Sequencing and Deletion Analysis by NGS

Also known as: MTDNA NGS

Clinical Use

Use

This test is used to assess for sequence variants in the mitochondrial genome (mtDNA) that can cause mitochondrial disorders. It is particularly useful for individuals presenting with clinical symptoms characteristic of specific mitochondrial disorders, such as Leber Hereditary Optic Neuropathy (LHON), Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS), Myoclonic Epilepsy with Ragged-Red Fibers (MERRF), and Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP).

Special Instructions

Not provided.

Limitations

Next-generation sequencing may not detect large-scale mtDNA deletions present at 5% heteroplasmy or lower or mtDNA point variants present at 2% heteroplasmy or lower. Sensitivity of testing may be reduced for insertions and deletions in repetitive regions. Alternative sequencing or other detection methods may be used to analyze or confirm mtDNA variants. Normal findings do not rule out the diagnosis of a genetic disorder since some genetic abnormalities may remain undetectable by this test.

Test Details

New York Approved