FAQs

When testing patients with an inherited disease that is suspected to be caused by mtDNA mutations. Mitochondrial testing is well suited for patients with complex phenotypes, often affecting organs with high energy requirements (muscle, brain, eyes, etc). Mitochondria perform many different functions in tissues throughout the body. Therefore, the clinical spectrum of mitochondrial disorders is diverse. Symptoms range from fatigue and exercise intolerance to hearing loss, seizures, strokes, heart failure, diabetes, and kidney failure.  

 Read more about mtDNA testing here. 

Blueprint Genetics’ mtDNA testing includes sequencing and copy number variant analysis of the entire mitochondrial genome (37 genes), which can be ordered alone or added to any panel. It has also been added to 30 existing panels where the addition of mitochondrial DNA testing is expected to have an impact on the diagnostic yield. 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. At this time, mitochondrial testing is not available for Whole Exome Sequencing.  

Yes. The whole mitochondrial genome or individual mtDNA genes can also be added to any panel in our online portal Nucleus. You can read more about customization here.  

No, but you can customize any panel by adding the whole mtDNA genome or individual mtDNA genes.   

Yes, if the index patient was tested at Blueprint Genetics.

We offer excellent heteroplasmy detection capabilities as well as CNV detection (deletions) for mtDNA analysis. You can also find metrics available on our website under each test.  

A summary of our quality metrics:   

• Mean sequencing depth of 18,224x    
• 100% of base pairs are covered at minimum 1,000x    
• Heteroplasmy detection capabilities:    
  • 100% sensitivity to detect SNVs and INDELs with over 10% heteroplasmy  
  • SNVs: 92.3% sensitivity at 5% heteroplasmy  
  • Indels: >94% sensitivity at 5% heteroplasmy  
  • Large 500bp – 5,000kb deletions: down to 10% heteroplasmy (at 99% sensitivity)