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).
Mnemonic
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
30-33 days
New York DOH Approval Status
Specimen Required
Lavender (K2 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
Components
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 |
Aliases
- 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)
GeneDx