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Genetic test for specific single-nucleotide variants in the *APOB* gene using a probe-based assay (e.g., for detecting pathogenic mutations associated with familial hypercholesterolemia or other lipid-related genetic conditions)

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

This test checks for certain changes (mutations) in the gene that helps regulate cholesterol levels. These mutations may increase your risk of high cholesterol or related heart health issues.

Quick summary

["This test helps identify genetic factors linked to elevated cholesterol or cardiovascular risks."]

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

Key facts at a glance

LOINC
80363-5
Short code
C trach DNA Anorectl Ql NAA+probe
Synonyms
C trach DNA Anorectl 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 a family history of high cholesterol, heart disease, or other lipid disorders. It may also be used in genetic counseling or before certain treatments that could affect cholesterol metabolism.

What to Expect Before the Test

No special preparation is needed. You’ll provide a blood sample, similar to other routine blood tests. The sample is processed to analyze DNA for specific mutations in the *APOB* gene.

What the Results Mean

Results will indicate whether you have the specific mutations tested for. If mutations are found, they may increase your risk of high cholesterol or related health concerns. Results are used to guide lifestyle or medical recommendations.

Common Questions About This Test

This test focuses on detecting mutations in the *APOB* gene, not overall cholesterol levels. It’s not a routine cholesterol screening but may be part of a broader genetic evaluation.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

APOB Gene Mutation Probe Test

Frequently asked questions

How often will I need this test?
The need for this test depends on your medical history, family history, and healthcare provider’s recommendations. Some people may need follow-up testing or monitoring over time.
What if my results show a mutation?
If mutations are detected, your provider may discuss lifestyle changes, medications, or monitoring to manage cholesterol and heart health. Genetic counseling can help explain next steps and risks.
Is this test covered by insurance?
Coverage depends on your insurance plan, medical necessity, and whether this test is part of a broader genetic evaluation. Always check with your insurance provider for specifics.
  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