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Mitochondrial Disorders Panel (mtDNA and Nuclear Genes)
3001959
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.
Submit With Order
ARUP Consult®
Disease Topics
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) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data


Note
Hotline History
View Hotline History
CPT Code(s)
Components
Component Test Code*Component Chart NameLOINC
2010873Ordering Physician Name67102-4
2010874Ordering Physician Phone Number67714-6
3001960EER Mito Disorders, mtDNA/Nuclear Genes11526-1
3001961Mito Disorders, mtDNA and Nuclear Genes40995-3
* 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

Performed at GeneDx