Ordering Recommendation

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).

Mnemonic
MITO PAN
Methodology

Next Generation Sequencing

Performed

Varies

Reported

6 - 7 weeks

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (K or K EDTA). 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

Refrigerated.

Unacceptable Conditions
Remarks
Stability

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

Reference Interval

By report

Interpretive Data



Compliance Category

Performed by non-ARUP Laboratory

Note
Hotline History
N/A
CPT Codes

81460; 81465; 81440

Components
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
* 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.
Aliases
  • 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
Mitochondrial Disorders Panel (mtDNA and Nuclear Genes)

GeneDx