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BRCA2 Mutation Status (Serum/Plasma Probe Screening)

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

This test checks for genetic changes in the BRCA2 gene, which may increase your risk of certain cancers like breast or ovarian cancer. It uses a blood sample to detect specific DNA sequences associated with hereditary cancer syndromes.

Quick summary

["A BRCA2 mutation screening test helps identify if you may have a higher risk for inherited cancer, guiding future prevention or monitoring strategies."]

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

Key facts at a glance

LOINC
52130-2
Short code
t(ABL1,BCR)b2a2/control Bld/T
Synonyms
t(ABL1,BCR)b2a2/control Bld/T
Category
coagulation
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
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

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of breast, ovarian, prostate, or pancreatic cancer, or if you were diagnosed with certain cancers at a younger age. It may also be suggested if you have a known BRCA1 or BRCA2 mutation in your family.

How the Test Works

A small blood sample is taken from your arm. The DNA from your blood cells is analyzed to look for specific mutations in the BRCA2 gene using a sensitive DNA probe technique. This helps determine if you carry any harmful genetic variations linked to cancer risk.

What to Expect Before the Test

No special preparation is needed for this test. You may have some mild discomfort from the needle, but it usually goes away quickly. If you are pregnant or breastfeeding, let your healthcare provider know before the test.

What to Expect After the Test

After the blood sample is taken, you can return to your normal activities immediately. You may experience slight bruising or swelling at the puncture site, which typically resolves within a few days. Avoid heavy lifting or strenuous activities for the rest of the day if needed.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Having a BRCA2 mutation means you are at a higher risk for certain cancers, including breast, ovarian, pancreatic, and prostate cancer. If a mutation is found, your healthcare provider will discuss personalized cancer prevention strategies, such as increased cancer screenings, medications, or surgery, to help manage your risk.

Short name

BRCA2 Mutation Screen

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of a BRCA2 mutation, which increases your risk of developing certain cancers. This information helps your healthcare team create a tailored plan for monitoring, prevention, or early intervention.
Can I still get cancer even if I have a BRCA2 mutation?
Yes, while having a BRCA2 mutation significantly raises your risk, it does not guarantee you will develop cancer. Many people with BRCA mutations never get cancer, and early detection and preventive measures can greatly reduce risks.
How often will I need follow-up tests if I have a positive result?
Your healthcare provider will determine the frequency of follow-up tests based on your specific mutation and family history. Regular screenings, such as mammograms, ovarian ultrasounds, or colonoscopies, may be recommended more frequently than standard tests for the general population.
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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