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: Mitochondrial Whole Genome Analysis, Blood

Published: August 9, 2026Updated: August 16, 2026

: This test analyzes the entire mitochondrial genome from a blood sample to look for genetic changes that can affect how the body produces energy. It is used to help investigate suspected mitochondrial disorders.

Quick summary

[": Mitochondrial whole genome analysis examines all of the mitochondrial DNA to help identify variants linked to mitochondrial disease."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
101152-7
Short code
Mitochondria whole genome analysis Bld/T
Synonyms
Mitochondria whole genome analysis Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
CPT
86038
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

: What This Test Looks At

: Mitochondria are tiny structures inside your cells that produce energy. They carry their own small set of DNA, separate from the DNA in the cell nucleus. This test reads the full mitochondrial genome to look for changes (variants) in that DNA.

: Why It May Be Ordered

: Your healthcare provider may order this test if you have symptoms or test results that suggest a mitochondrial disorder, such as unexplained muscle weakness, fatigue, neurological problems, or abnormal metabolic findings. It can also help clarify a diagnosis when other tests are inconclusive.

: How the Sample Is Collected

: The test is performed on a blood sample, usually drawn from a vein in your arm. In some situations a provider may also consider other tissue samples, but this order refers to whole blood.

: What the Results Mean

: Results describe whether variants were found in the mitochondrial genome and, when possible, how they relate to known mitochondrial conditions. Some variants are clearly disease-causing, while others are uncertain or harmless. Because mitochondrial DNA is complex, results are best interpreted by a genetics specialist alongside your symptoms and family history.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

: Mitochondrial DNA variants can affect energy production in many organs and are associated with a range of conditions, from mild to severe. Identifying a variant can support diagnosis, guide monitoring, and inform family discussions, though some findings remain of uncertain significance and require specialist interpretation.

Short name

: Mitochondrial Genome Testing

Frequently asked questions

: Is this the same as testing my nuclear DNA?
: No. This test focuses on mitochondrial DNA, which is separate from the DNA in the cell nucleus. It does not examine nuclear genes unless a different test is specifically ordered.
: Do I need to fast before this test?
: Generally no special preparation is needed for a blood draw, but follow any instructions your provider or laboratory gives you.
: Can a normal result rule out all mitochondrial disease?
: Not necessarily. Some mitochondrial disorders are caused by changes in nuclear DNA or by factors this test does not detect, so a normal result should be discussed with your provider and, when appropriate, a genetics specialist.
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This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy