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).




Massively Parallel Sequencing




30-33 days

New York DOH Approval Status

This test is New York DOH 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

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
2010873 Ordering Physician Name 67102-4
2010874 Ordering Physician Phone Number 67714-6
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