Definition

This test sequences the entire mitochondrial genome, approximately 16,569 base pairs containing 13 protein-coding genes, 22 tRNA genes, and 2 rRNA genes, using NGS, detecting both point mutations and large deletions, and quantitatively measures the heteroplasmy rate. The heteroplasmy level can vary across different tissues of the same individual.

Method

Sequence Analysis

Accepted sample types

EDTA Blood

Description

The mitochondrial genome is analyzed.

Inheritance

Inheritance is maternal (through the mother) and can vary by tissue due to heteroplasmy.

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