Test Directory

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.

Diagnostic testing.

Specimen Type: Whole Blood

Collection Container: Lavender Top (EDTA)

Desired Specimen Volume: 4 mL

1. Collect 2 lavender top (EDTA) tubes via venipuncture.

1. Transport 4 mL of whole blood in the original collection containers.

Transport to the laboratory refrigerated.

• Hemolysis

See patient report.

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.

• Mitochondrial Genome Sequencing and Deletion Analysis