Human Mitochondria

The Otogenetics Human Mitochondrial DNA NGS deep sequencing (currently for research use only) allows for the identification of gene variants with known risk in mitochondrial DNA associated-diseases.

The mitochondrion is the powerhouse of eukaryotic cells, and contains its own circular genome (mtDNA). The mtDNA is a mere 16,569 base pairs and encodes for 2 ribosomal RNAs, 22 transfer RNAs and 13 proteins that are part of the respiratory chain.

Despite its small size, the genome of the mitochondrion plays a critical role. Each mitochondrion has multiple copies of mtDNA, and there are 100-1000s of mitochondria per cell, dependent on the cell type. Usually, mtDNA mutations affect only a fraction of the mtDNA. Mutations in mtDNA have been associated with diverse forms of human disease and aging.

Human Mitochondria Testing Rationale

Otogenetics Human Mitochondrial DNA NGS deep sequencing (currently for research use only) allows for the identification of gene variants with known risk association with potential mutations in mitochondrial DNA associated- diseases. The genetic test can provide critical genetic information both for the affected subjects and their family members. The information may be used to advance the research of mitochondria mutation related human diseases.

  • Ultra-deep ( >2000x coverage) sequencing.
  • Custom analysis available.
  • Minimum of ≥2 samples per shipment.