Mitochondrial DNA testing can identify variants associated with disease, but it usually cannot tell you with certainty whether you will develop a condition, when it might begin, or how severe it would be. Results need to be interpreted in context: the specific variant, the amount and distribution of altered mitochondrial DNA, your symptoms, your family history, and what the test was able to detect all matter. A genetic counselor can help explain what a result does—and does not—mean for you and your relatives.
What can mitochondrial DNA tell you about disease risk?
Mitochondria have their own DNA, separate from the DNA in a cell’s nucleus. Some inherited changes in mitochondrial DNA (mtDNA) can cause disorders that affect multiple body systems, including the brain, muscles, and heart. The range of symptoms and their severity can vary substantially.
As an Amazon Associate I earn from qualifying purchases.
A test may find a variant known to be associated with a disorder and help clarify inherited risk. That is useful information, but it is not usually a precise forecast. A positive result does not by itself establish whether or when a person will become ill, or how severely. A negative result may not rule out a condition if the test did not detect every relevant variant or type of change. MedlinePlus explains these limits in its guidance on what genetic test results mean.
Interpretation depends on the exact finding and the person—not just the word “positive” or “negative” on a report. A counselor may consider whether the variant is classified as disease-associated or uncertain, what method and sample were used, and whether the result fits the person’s symptoms and family history.
#1 Best Overall
- REVIEW IMPORTANT TEST INFO: There is a lot to consider with genetic testing. Before purchasing, review important information about Genetic Health Risk*, Carrier Status*, and Pharmacogenetics** reports at 23andme. org/test-info and 23andme. org/test-info/pharmacogenetics. A portion of your purchase may be eligible for FSA/HSA reimbursement***.
- UNDERSTAND YOUR GENETIC HEALTH: Receive 160+ personalized genetic reports, including 50+ Conditions* and wellness reports. Get insights into heart health, metabolic health, mental health, and more. You choose whether to view certain reports.
- TRACK HEALTH GOALS: Health Tracks(SM) show how everyday choices may shape your health over time. Opt in to the Family Health History Tree to input and track information to share with your healthcare provider.
- PLAN AHEAD WITH 45+ CARRIER STATUS REPORTS*: Find out whether you carry a genetic variant for inherited conditions across categories like blood, lung, and hearing health, information you can bring to family planning conversations with your healthcare provider.
- LEARN HOW YOUR BODY MAY RESPOND: FDA-authorized pharmacogenetics reports show how your DNA may impact the way your body processes certain medications**, including some used in heart health and mental health care. Talk to your healthcare provider before making any medication changes.
Why heteroplasmy makes prediction difficult
Cells can contain a mixture of mitochondria with altered and unaltered mtDNA. This mixture is called heteroplasmy. The proportion of altered mtDNA can be related to disease severity, but it is not a universal stand-alone predictor.
The proportion may differ among tissues, so a result from one sample may not represent the level in another. It can also vary among relatives. As a result, a percentage reported for one sample cannot automatically be treated as a whole-body measure or used on its own to predict an individual’s symptoms.
Rank #2
- TOP-SELLING CONSUMER DNA TEST: From your origins in over 3,600 places around the world to the most connections to living relatives, no other DNA test kit delivers an experience as unique and interactive as AncestryDNA.
- YOUR DATA, YOUR CONTROL: We give you full control over your genetic information. You decide what to share, and with whom.
- A FEW SIMPLE STEPS: Simply activate your DNA kit online and return your saliva sample in the prepaid package to our state-of-the-art lab. Your results will be available online in roughly six weeks.
- ORIGINS AND INHERITANCE: AncestryDNA provides more precise ancestral origins with greater geographic detail. Our innovative SideView technology takes your results even further by showing your origins and matches by parental side. *Some DNA features require an Ancestry subscription.
- BUILD YOUR FAMILY TREE: Combine what you learn from your DNA results with an Ancestry subscription and gain access to millions of family trees and the world's largest collection of online family history records. *Access to record collections varies depending on subscription level.
For the mtDNA-associated Leigh syndrome spectrum, GeneReviews describes maternal inheritance but says that “it is not possible to make specific predictions about clinical outcome in individuals or their offspring.” That limitation reflects factors including tissue differences, the mitochondrial bottleneck during transmission, and variant-specific effects; it should not be turned into a single recurrence estimate for all mitochondrial DNA variants. See the GeneReviews discussion of mitochondrial DNA-associated Leigh syndrome spectrum.
The Tool Desk
Outbyte PC Repair FREEClear out junk files and repair common Windows errorsFree Scan →Outbyte Driver Updater FREEScan for outdated or missing drivers - takes under a minuteDriver Scan →What a direct-to-consumer result can—and cannot—show
A direct-to-consumer (DTC) report may provide a risk estimate or flag a variant, but it is not the same as a clinical diagnosis. DTC tests are generally intended to provide information, not to diagnose, prevent, or treat disease. Depending on the test, it may not examine all relevant variants or other factors that influence risk. A reported increase in risk is not a guarantee that disease will develop.
Rank #3
- REVIEW IMPORTANT TEST INFO: There is a lot to consider with genetic testing. Before purchasing, review important information about Genetic Health Risk* and Carrier Status* reports at 23andme. org/test-info. A portion of your purchase may be eligible for FSA/HSA reimbursement***.
- UNDERSTAND YOUR GENETIC HEALTH: Get 10+ Condition reports* that show whether you have genetic variants associated with a higher risk of certain conditions. Includes FDA-authorized reports, and you choose whether to view certain reports.
- PLAN AHEAD WITH 45+ CARRIER STATUS REPORTS*: Discover if you carry a genetic variant for inherited conditions across categories like blood, lung, and hearing health, information you can bring to family planning conversations with your healthcare provider.
- OPTIMIZE YOUR DAILY WELLNESS: See how your genes may influence lifestyle factors like deep sleep, lactose intolerance, genetic weight, and muscle composition.
- MAP YOUR ORIGINS ACROSS 5,000+ REGIONS: Explore your Ancestry Composition, trace maternal and paternal haplogroups (paternal requires a Y chromosome), and dig into your Neanderthal Ancestry. Opt in to find up to 1,500 DNA Relatives, and your Family Tree builds itself automatically.
Do not change medical care based only on a consumer report. If it raises a concern, discuss it with a healthcare professional or genetic counselor. MedlinePlus outlines how to interpret direct-to-consumer genetic test results. Tests differ, so the important questions are what this particular test covered, what sample it used, and what its limitations are.
Questions to take to a genetic counselor
Bring the test report if you have it. These questions can help turn a result into a clearer discussion of its meaning and possible next steps:
Rank #4
- MAP YOUR ORIGINS ACROSS 5,000+ REGIONS: Ancestry Composition breaks down your ethnicity across 5,000+ geographic regions worldwide, the most detailed ancestry breakdown of any consumer DNA service. Ancestry Timeline estimates how many generations ago your most recent ancestor from each population lived.
- FIND LIVING RELATIVES: Opt in to DNA Relatives to see up to 1,500 people in the 23andMe database who share DNA with you, from close family to distant cousins, and message them directly. Your Family Tree builds itself automatically based on your DNA.
- DISCOVER WHAT MAKES YOU UNIQUE: See how your DNA may influence physical features, sensory preferences, and habits across 30+ traits, including cilantro taste aversion to hair texture to deep sleep.
- TRACE ANCIENT MIGRATIONS: Maternal and Paternal Haplogroup reports follow your ancestors' migration paths across continents over thousands of years (paternal haplogroup requires a Y chromosome). Find out how much of your ancestry can be traced back to the Neanderthals.
- PRIVATE BY DESIGN: Your DNA data is encrypted, protected, and always under your control. Enhanced security measures are implemented to keep your information safe. Subject to 23andMe’s Terms of Service and Privacy Statement at 23andMe online.
- What exact mtDNA variant did the test find, and how is it classified?
- Was this a clinical-grade test? What method and sample type were used?
- Which variants, deletions, or levels of heteroplasmy could this test miss?
- Could the amount of the variant differ in other tissues? Would another sample be useful in my case?
- How do my symptoms and family history affect the interpretation?
- Does the result support a diagnosis, indicate a risk, or remain uncertain?
- What does this result mean for my biological relatives or future children—and what cannot be predicted?
- Should any relatives be tested? If so, which relatives and with what kind of test?
- Would an assessment by a mitochondrial disease specialist or another clinician be appropriate?
- If the report says “variant of uncertain significance” or gives only a consumer risk estimate, what should I do next?
Genetic counseling provides information and support for understanding genetic risks and possible choices. MedlinePlus describes the role of genetic counseling. A counselor can help assess whether further clinical evaluation is appropriate; counseling does not make an uncertain result more predictive than the evidence allows.
Recommended Free Tools
How to think about inherited and acquired mtDNA changes
Not every mtDNA change is inherited. Some changes arise during a person’s life, and MedlinePlus notes that somatic mtDNA changes are noninherited and have been associated with some age-related conditions. Such associations do not amount to a validated personal risk calculator. If a report mentions a change, ask whether it is considered inherited or acquired and what that distinction means for your situation. See MedlinePlus Genetics’ overview of mitochondrial DNA.
Quick Recap
Best Value
- GO DEEPER THAN OTHER DNA TESTS: Trace your ancestry across 5,000+ geographic regions with the most comprehensive ancestry breakdown on the market. Then go further back with Haplogroups, Neanderthal ancestry, Distant Genetic Groups and 30+ Trait reports.
- SEE WHICH PARENT EACH REGION CAME FROM: Parental Inheritance splits your ancestry into each side of your family, even if neither parent has tested. Family Tree builds itself automatically from your results and predicts your genetic relationships.
- MEET YOUR ANCESTORS, NOT JUST YOUR COUSINS: Historical Matches(R) connects your DNA to real people from the past, from Ancient Rome to Neolithic Ireland. Reconstructed Ancestors rebuilds the genetic profile of relatives who lived before DNA testing.
- 5,000 DNA RELATIVES, ORGANIZED FOR YOU: Opt in to find living relatives through shared DNA, over 3x more than our basic Ancestry Service. Clustering sorts matches into visual family groups, and advanced filters let you search by region, lineage, and relationship.
- PRIVATE & SECURE: Your DNA data is encrypted, protected, and always under your control. Enhanced security measures are implemented to keep your information safe. Subject to 23andMe’s Terms of Service and Privacy Statement at 23andMe online. Valid payment method required at kit registration.
Product prices and availability are accurate as of the date/time indicated and are subject to change. Any price and availability information displayed on Amazon at the time of purchase will apply.
