ARUP's Laboratory Test Directory

Mitochondrial DNA (mtDNA), Whole Genome Scanning and Identification (Mito-ScanGx) : 0093019

Mnemonic: MT-DNA-WGS

Methodology: Polymerase Chain Reaction/Denaturing High Performance Liquid Chromatography/Sequencing
Performed: Varies
Reported: Within 5 weeks
Specimen Required: 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

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

 

 

 
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