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Mitochondrial Disorders Panel (mtDNA and Nuclear Genes)
Copy Utility
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
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
42-49 days
New York DOH Approval Status
Specimen Required
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.
Refrigerated.
Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Performed by non-ARUP Laboratory
Note
Hotline History
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 |
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
GeneDx
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