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What is Mitochondrial Genome Sequencing (mtDNA)?

Our DNA is made up of parts that we inherit from both parents - this DNA is stored in a region of the cell called the nucleus (and called nuclear DNA or nDNA). We also have a second, separate DNA that we inherit only from our mothers and it resides in the mitochondria. This is called mitochondrial DNA (mtDNA). This mtDNA is responsible for things like the generation of energy sources for our cells. 


A certain number of diseases are caused by changes in mtDNA. Because the structure of mtDNA is different from nDNA, different sequencing methods are used by Discovery DNA to diagnose mitochondrial diseases. Therefore, this mtDNA test must be run separately to get the yields that we look for to provide medically actionable results.

When should I order a mtDNA test?
This test should be ordered if there is a good idea that your symptoms or condition is based on the mitochondrial genome. At Discovery DNA, we currently bundle the mtDNA sequencing test with the WES and WGS tests, and this may be the most cost effective path forward. If you are unsure, we can book an appointment and see what would be the test that best suits your needs.


Included with your purchase:

  • Simple and easy self-collection kit from industry-leader DNA Genotek
  • All the shipping supplies and documentation needed
  • Sample processing and analysis pipeline accredited by the College of Physicians & Surgeons of Alberta (CPSA)
  • If required, a doctor's letter to your care team to help inform any next steps


For more information, contact us at


Important Information:

Results are typically ready within 1-2 months, once received in the laboratory, unless unexpected circumstances arise. These circumstances will be communicated as soon as possible. We reserve the right to limit quantity of orders purchased. Please contact for bulk purchasing options.

Mitochondrial Genome Sequencing


    Thanks for purchasing, or considering to purchase, a  Mitochondrial Genome Sequencing test from our website We appreciate your business during these stressful times.

    We take pride in performing the adequate quality control measures and taking the steps necessary to ensure that our lab’s protocols actions and procedures are trackable and ultimately provide you with a test result that you can trust.

    The amount of money back provided from refunds is different depending on the conditions of your order. We invite you to read the conditions explained in more detail below, in order to see the condition that applies to your situation, while following the correct procedure.

    1. If you cancel your order before we ship your sample collection kit: If you request a refund after placing your order, but before our Sample Coordinator ships you your sample collection kit, we will provide you with a full refund less a small service charge.

    2. If you cancel your order after we ship you your sample collection kit: If you request a refund after your sample kit is shipped to you, OR after you ship back the collection kit, we will provide you with a full refund less shipping and collection kit costs, and a small service charge

    If you have any questions about our refund policy, please contact us at

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