Ordering Recommendation

Assess for sequence variants in the mitochondrial genome (mtDNA) causing mitochondrial disorders, especially for individuals with clinical symptoms characteristic of a specific disorder, 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).

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation

Lavender (K2 or K3EDTA). Also acceptable: Buccal swabs.

Specimen Preparation

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.

Storage/Transport Temperature


Unacceptable Conditions

Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable


Massively Parallel Sequencing




30-33 days

Reference Interval

By report

Interpretive Data

Compliance Category

Performed by non-ARUP Laboratory


Hotline History


CPT Codes

81460; 81465


Component Test Code* Component Chart Name LOINC
3001966 EER Mito Disorders, mtDNA, Seq/Del 11526-1
3001967 Mito Disorders, mtDNA, Seq/Del 40995-3
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • Aminoglycoside-Induced Deafness
  • cblJ Type
  • Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)
  • Chronic Progressive External Ophthalmoplegia (CPEO)
  • Coenzyme Q10 Deficiency
  • Complex I Deficiency
  • Complex III Deficiency
  • Complex IV(Cytochrome C Oxidase) Deficiency
  • Complex V (ATP Synthesis) Deficiency
  • Diabetes and Hearing Loss
  • Kearns-Sayre Syndrome (KSS)
  • Lactic acidosis
  • Lebers Hereditary Optic Neuropathy (LHON)
  • Maternally Inherited Deafness
  • Maternally Inherited Diabetes Mellitus (MIDM)
  • Maternally Inherited Diabetes/Deafness (MIDD)
  • Methylmalonic Aciduria and Homocystinuria
  • Mitochondrial Encephalomyopathy (Lactic Acidosis and Stroke-Like Episodes) (MELAS)
  • Mitochondrial Myopathy (MM)
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
  • Myoclonic Epilepsy Ragged-Red Fibers (MERRF)
  • Neurogenic Weakness Ataxia and Retinitis Pigmentosa (NARP)
  • Optic Atrophy
  • Oxidative Phosphorylation (OXPHOS) Deficiency
  • Pearson Syndrome
  • Sensorineural Hearing Loss (SNHL)
Mitochondrial Disorders (mtDNA) Sequencing and Deletion Analysis by NGS