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Mitochondrial DNA Analysis in Aspirate by Quantitative Liquid Chromatography-Mass Spectrometry (mtDNA profile)

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

This test measures the quantity and types of mitochondrial DNA (mtDNA) in a sample taken from a body aspirate, often used to assess cellular health, genetic mutations, or mitochondrial function in specific tissues.

Quick summary

["Understanding mitochondrial DNA can help diagnose or monitor conditions affecting energy production in cells."]

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

Key facts at a glance

LOINC
91763-3
Short code
M tb DNA Aspirate Ql NAA+probe
Synonyms
M tb DNA Aspirate Ql NAA+probe
Category
chemistry
Sample
serum
Container
Red-top tube (SST)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
probe-amp-tar
Specimen volume
5 mL
Stability
Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
Hemolysis max
500
Lipemia max
1000
Icterus max
500
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have symptoms or conditions linked to mitochondrial disorders, such as unexplained fatigue, muscle weakness, neurological issues, or genetic testing for inherited mitochondrial diseases. It may also be used in research or specialized diagnostic settings where detailed mtDNA analysis is needed.

What to Expect During the Procedure

A sample of fluid (aspirate) is collected from a specific body site, such as a joint, organ, or other tissue. The procedure is typically done under sterile conditions and may involve local anesthesia. The sample is then sent to the lab for mtDNA analysis using advanced techniques like liquid chromatography-mass spectrometry to detect and quantify mitochondrial genetic material.

What the Results Mean

The results provide a profile of mitochondrial DNA content and potential mutations. Abnormal findings may indicate mitochondrial dysfunction, genetic predispositions, or other underlying health concerns. Your healthcare provider will interpret these results in the context of your symptoms and medical history.

Common Uses and Conditions

This test is often used in research, specialized diagnostics, or cases where mitochondrial disorders are suspected but standard tests are inconclusive. It can help identify mitochondrial DNA abnormalities that may contribute to conditions like neurodegenerative diseases, metabolic disorders, or certain cancers.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

mtDNA Profile (Liquid Chromatography-Mass Spectrometry)

Frequently asked questions

What is an aspirate sample, and how is it collected?
An aspirate sample is a small amount of fluid taken from a specific body site using a needle. This procedure is similar to drawing blood but targets fluids like synovial fluid (joint fluid), cerebrospinal fluid, or other specialized body fluids. The sample is collected under sterile conditions to ensure accuracy and prevent contamination.
How does mtDNA analysis differ from standard genetic testing?
While standard genetic testing focuses on nuclear DNA (DNA from chromosomes), this test specifically analyzes mitochondrial DNA. Mitochondrial DNA is distinct because it is passed down exclusively from the mother and can be more sensitive to certain mutations affecting energy production in cells. This specialized approach helps identify mitochondrial-related issues that may not be detected through nuclear DNA testing alone.
Can this test be used for routine blood work, or is it specialized?
This test is highly specialized and not typically part of routine blood work. It is reserved for specific clinical scenarios, such as diagnosing mitochondrial disorders, research studies, or cases where detailed mitochondrial DNA analysis is required. Your healthcare provider will determine if this test is appropriate for your situation.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

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