ARUP's Laboratory Test Directory
| 0093019: Mitochondrial DNA (mtDNA), Whole Genome Scanning and Identification (Mito-ScanGx™) |
| Test Mnemonic: MT-DNA-WGS | |
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Methodology: Polymerase Chain Reaction/Denaturing High Performance Liquid Chromatography/Sequencing
Performed: Varies Reported: Within 5 weeks |
| Specimen Required: | |
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Collect: Two 5 mL lavender (EDTA) or pink (K2EDTA).
Transport: 10 mL whole blood at 2-8°C. (Min: 10 mL) Pediatric Collection/Transport: 6 mL whole blood at 2-8°C. Remarks: Patients with Kearne-Sayre Syndrome should submit 50 mg muscle tissue for analysis (30 mg for pediatric specimens), frozen. Transport muscle tissue on dry ice. Unacceptable Conditions: Paraffin blocks. Stability: Blood: Ambient: 24 hours; Refrigerated: 7 days; Frozen: Unacceptable Muscle (when required): Ambient: Unacceptable; Refrigerated: Unacceptable; Frozen: Indefinitely |
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| Reference Interval: |
| By report |
| Interpretive Data: | |
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Background Information: Characteristics: Commonly associated features of mitochondrial disease include: ptosis, external ophthalmoplegia, proximal myopathy, exercise intolerance, cardiomyopathy, sensorioneural deafness, optic atrophy, pigmentary retinopathy and diabetes mellitus. Central nervous system findings may include: fluctuating encephalopathy, seizures, dementia, migraine, stroke-like episodes, ataxia, and spacticity. Increased risk for mid- to late-term pregnancy loss. Incidence: Approximately 1 in 8,500 for all mitochondrial diseases. Inheritance: Heteroplasmic mtDNA point mutations and duplications are usually maternally inherited; mtDNA deletions are typically de novo. Cause: Mutations in the mitochondrial genome. Mutations Detected: Mitochondrial point mutations, deletions, and duplications. Clinical Sensitivity: 99% Methodology: Mutation scanning using denaturing high-performance liquid chromatography (DHPLC) and surveyor nuclease. Sequence analysis by double-stranded DNA sequencing to confirm heteroplasmic mutations and screen for pathogenic homoplastic mutations. Analytical Sensitivity and Specificity: 99% Limitations: Mutations in nuclear genes will not be detected. |
| CPT Code(s): | |
| 83891 Isolation; 83898 x40 Amplification; 83903 x40 Mutation scanning; 83904 x16 Mutation identification; 83912 Interpretation and report |