Mitochondrial Genome Sequencing and Deletion Analysis

TEST: 630685
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CPT: 81460; 81465
Updated on 11/5/2024
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Test Includes

This test includes the following genes: MT-ATP8, MT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND4, MT-ND5, MT-ND6, MT-RNR2, MT-TA, MT-TR, MT-TN, MT-TD, MT-TC, MT-TE, MT-TQ, MT-TG, MT-TH, MT-TI, MT-TL1, MT-TL2, MT-TK, MT-TM, MT-TF, MT-TP, MT-TS1, MT-TS2, MT-TT, MT-TW, MT-TY, MT-TV, MT-RNR1, MT-RNR2.

Expected Turnaround Time

2 - 4 weeks

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.

Genes Assessed

      Specimen Requirements

      Specimen

      Whole blood at room temperature; oral swab; extracted DNA (from blood, oral swab or muscle only) or frozen muscle tissue

      Volume

      Whole blood: 4 mL; oral swab: 3 swabs; muscle: 75 milligrams; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

      Minimum Volume

      Whole blood: 2 mL; oral swab: 1 swab; muscle: 50 milligrams; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

      Container

      Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; muscle: sterile screw-capped vial; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

      Collection

      Whole blood: standard phlebotomy; oral swab: follow kit instructions; 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

      Maintain whole blood and oral swab specimens at room temperature or refrigerate at 4°C. Do not freeze. Muscle specimen: Maintain frozen and ship on dry ice.

      Stability Requirements

      • Room temperature: whole blood: 14 days; swab: 60 days; muscle: 0 days

      • Refrigerated: whole blood: 30 days; swab: 60 days; muscle; 0 days

      • Frozen: muscle: 15 years

      Causes for Rejection

      Hemolyzed; quantity not sufficient for analysis; improper container; improper storage temperature

      Test Details

      Use

      Diagnostic testing

      Limitations

      This assay does not detect mitochondrial depletion. False positive or false negative results may occur for reasons that include 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

      Next-generation sequencing of long range PCR products to identify single nucleotide variants (SNVs), small indels and large deletions

      Real-time quantitative PCR analysis to identify mitochondrial depletion

      Next-generation sequencing of long range PCR products to identify single nucleotide variants (SNVs), small indels and large deletions

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