Mitochondrial DNA Depletion Testing (Muscle)

TEST: 620094
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CPT: 81479
Updated on 12/5/2024
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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

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

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)

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

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

Real-time Quantitative PCR Analysis to identify mitochondrial depletion

Real-time quantitative PCR analysis to identify mitochondrial depletion

For Providers

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The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf