Mitochondrial DNA Depletion Testing (Muscle)

CPT: 81479
Updated on 12/5/2024

Special Instructions

This assay currently is not available in New York state.

This assay is not currently available in New York state.

This assay currently is not available in New York state.


Expected Turnaround Time

14 - 28 days


Specimen Requirements


Specimen

Frozen muscle tissue or extracted DNA (from muscle only)


Volume

Muscle: 75 milligrams; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Minimum Volume

Muscle: 50 milligrams; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Container

Muscle: sterile screw capped vial; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Collection

Muscle: Snap freeze in liquid nitrogen and maintain at -80°C; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Storage Instructions

Muscle specimen: Maintain frozen and ship on dry ice.


Stability Requirements

Room temperature: 0 days

Refrigerated: 0 days

Frozen: 15 years


Causes for Rejection

Quantity not sufficient for analysis; improper container; improper storage temperature


Test Details


Use

Diagnostic testing


Limitations

This assay does not detect single nucleotide variants (SNVs), small indels and large deletions. False positive or false negative results may occur for reasons that include rare genetic variants that may affect the analysis, homologous regions, blood transfusions, bone marrow transplantation, tissue-specific heteroplasmy, mislabeled samples or erroneous representation of family relationships. Low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change. 

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

 

 


Methodology

Real-time quantitative PCR analysis to identify mitochondrial depletion


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