Preferred test to confirm a suspected diagnosis of a mitochondrial disorder caused by a mitochondrial genome (mtDNA) sequence variant or variant(s) in related nuclear genes. Test not indicated for disorders commonly caused by large deletions in the mtDNA (eg, chronic progressive external ophthalmoplegia [CPEO], Kearns-Sayre syndrome [KSS], and Pearson syndrome).
Massively Parallel Sequencing
New York DOH Approval Status
Lavender (K2EDTA or K3EDTA). Also acceptable: Buccal swabs.
Transport 5 mL whole blood (Min: 2 mL) or 2 buccal swabs. (Min: 2 swabs)
Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.
Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable
Performed by non-ARUP Laboratory
81460; 81465; 81440
|Component Test Code*||Component Chart Name||LOINC|
|2010873||Ordering Physician Name||67102-4|
|2010874||Ordering Physician Phone Number||67714-6|
|3001960||EER Mito Disorders, mtDNA/Nuclear Genes||11526-1|
|3001961||Mito Disorders, mtDNA and Nuclear Genes||40995-3|
- Lebers Hereditary Optic Neuropathy (LHON)
- Leigh Syndrome
- Mitochondrial DNA Depletion Syndrome
- Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
- Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
- Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
- Spastic Ataxia