Reference Interval:
By report
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| Interpretive Data: |
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.
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| CPT Code(s): |
83891 Isolation; 83898 x40 Amplification; 83903 x40 Mutation scanning; 83904 x16 Mutation identification; 83912 Interpretation and report
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