Mitochondrial DNA Testing

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

Content last modified: 14 July 2022

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. 

Content last modified: 21 March 2023

The turnaround time for the great majority of panels is 28 days. 

Content last modified: 14 July 2022

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.  

Content last modified: 14 July 2022

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

Content last modified: 14 July 2022

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

Content last modified: 14 July 2022

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:  

  • Meansequencingdepth of 18,224x   
  • 100% of base pairs are covered at minimum 1,000x   
  • Heteroplasmydetectioncapabilities:   
    • 100% sensitivity to detect SNVs and INDELs with over 10% heteroplasmy 
    • SNVs92.3%sensitivity at 5% heteroplasmy
    • Indels: >94%sensitivity at 5% heteroplasmy
    • Large 500bp – 5,000kb deletions: down to 10% heteroplasmy (at 99% sensitivity)  
Content last modified: 14 July 2022