Mitochondria perform many different functions in tissues throughout the body. Therefore, the clinical spectrum of mitochondrial disorders is diverse, and symptoms can range from fatigue and exercise intolerance to developmental delay, hearing loss, seizures, strokes, heart failure, diabetes and kidney failure.

Mitochondrial disorders may be undetected with nuclear gene sequencing alone. Combining nuclear and mitochondrial DNA testing is a powerful tool for patients with clearly genetic presentations for which nuclear DNA testing would otherwise be negative.

• We have added the entire mitochondrial genome to more than 30 of our panels
• The mitochondrial genome is also available as its own test for patients with findings indicating mitochondrial disease or with previous negative nuclear DNA sequencing results.
• Any individual mtDNA genes or the entire mitochondrial genome can be added to any panel at no additional cost
• Our high-quality mtDNA testing includes both sequencing and copy number variant analysis for all the 37 mtDNA genes.

Next-generation sequencing (NGS) methodologies have emerged as the new gold standard for mtDNA genome sequencing because they allow significantly improved reliability and sensitivity of mtDNA genome analyses for point mutations, low-level heteroplasmy, and deletions, thereby providing a single test to accurately diagnose mtDNA disorders.

The performance of Blueprint Genetics mtDNA Testing

Heteroplasmy detection capabilities

• SNVs: 92.3% sensitivity at 5% heteroplasmy
• Indels: >94% sensitivity at 5% heteroplasmy
• Large 500bp – 5,000kb deletions: down to 10% (at 99% sensitivity)

Coverage

• Mean sequencing depth of 18,224x
• 100% of base pairs covered at 1,000x

Clinical presentation

Mitochondria are responsible for creating more than 90% of the energy needed by cells, thus, mitochondrial disease is essentially a chronic loss of cellular energy, where a failure to meet cellular energy demand results in a clinical phenotype. Therefore, it is not surprising that the parts of the body, such as the skeletal muscles, heart and brain, requiring the greatest amounts of energy are the typically affected. Because mitochondria perform so many different functions in different tissues, the clinical spectrum of mitochondrial disease is divers