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 may range, for example, from fatigue and exercise intolerance to hearing loss, seizures, strokes, heart failure, diabetes, vision loss, and kidney failure.    

Yes. The whole mitochondrial genome or individual mtDNA genes can be added to any panel in our online portal Nucleus. You can read more about customization here.  Moreover, our Whole Exome Sequencing (WES) includes analysis of all mitochondrial genes.  https://blueprintgenetics.com/customization-panels/ 

A Mitochondrial Genome Test and WES can be ordered at the same time with Expand to Exome pricing. After placing an order for a Mitochondrial Genome Test, an Expand to Exome order can be placed immediately afterwards. This will result in two separate reports, one for Mitochondrial Genome Test (TAT 28 days) and one for WES (TAT 8-10 weeks). Note that the WES order cannot be cancelled after receiving the Mitochondrial Genome Test report if the Expand to Exome order was placed before receiving the results.  

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)