Prostate-Specific Antigen (PSA) Gene Mutation Test, Blood
A blood-based genetic test that checks for certain DNA variants associated with increased prostate cancer risk; it is not the same as the standard PSA blood test.
["This test looks for inherited DNA changes that may increase prostate cancer risk, but it does not diagnose cancer or measure PSA protein levels."]
Key facts at a glance
- LOINC
- 21730-7
- Short code
- PSAP gene Mut Tested Bld/T
- Synonyms
- PSAP gene Mut Tested Bld/T
- Category
- tumor-marker
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Ref low
- 0
- Ref high
- 4
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 84153
- SNOMED
- 39392002
- 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 is this test?
This is a genetic test performed on blood that looks for certain DNA variants associated with prostate cancer susceptibility. It differs from the routine prostate-specific antigen test, which measures the amount of PSA protein in blood.
Why might I need this test?
It may be considered when prostate cancer runs in a family, when a relative has an inherited cancer-related gene variant, or when a clinician wants to assess inherited prostate cancer risk. It may also help guide genetic counseling and screening discussions.
How is the test performed?
A blood sample is collected, and its DNA is analyzed for selected genetic variants. The exact genes and variants included depend on the laboratory and the test ordered.
How do I prepare for the test?
No special preparation is usually required, and fasting is generally unnecessary. Because this is not the routine PSA screening test, you may not need to stop finasteride or dutasteride. Follow the instructions provided by the ordering clinician or laboratory.
Reference range
Normal: <4.0 ng/mLN/A
No special preparation required. For PSA, avoid sexual activity for 24-48 hours before the test.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
A detected cancer-associated variant may indicate an inherited tendency to develop prostate cancer or another associated cancer. It does not mean that cancer is present or will definitely develop. A negative result does not eliminate all genetic risk, and a variant of uncertain significance may not provide a clear risk estimate.
Short name
PSA gene mutation test
Frequently asked questions
Is this the same as a routine PSA test?
Does a positive result mean I have prostate cancer?
Will the test detect every genetic cause of prostate cancer?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
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.
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