High-Resolution Mutational Analysis of BRCA1 and BRCA2 Genes
This test checks for specific genetic changes (mutations) in the BRCA1 and BRCA2 genes, which are linked to an increased risk of certain cancers, including breast and ovarian cancer.
["Identifying BRCA mutations helps determine personalized cancer prevention and risk management strategies."]
Key facts at a glance
- LOINC
- 105755-3
- Short code
- M TB rrs high res mut Islt/Spm
- Synonyms
- M TB rrs high res mut Islt/Spm
- Category
- chemistry
- Sample
- serum
- Container
- Red-top tube (SST)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- 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 strong family history of breast or ovarian cancer, or if you’ve been diagnosed with these cancers at a younger age than typical. It may also be suggested if you’ve had other related cancers like prostate or pancreatic cancer, or if you’ve had breast cancer in both breasts.
What to Expect Before the Test
No special preparation is needed. You’ll provide a blood sample, which is typically drawn from your arm in a clinic or lab setting. The sample is processed and sent to a specialized lab for genetic analysis.
What the Results Mean
Results can be categorized as negative (no mutations found), positive (mutations detected), or uncertain (ambiguous results). Positive findings may indicate a higher cancer risk, prompting additional monitoring or preventive measures.
Common Conditions Linked to BRCA Mutations
BRCA mutations are strongly associated with hereditary breast and ovarian cancer syndromes. People with these mutations may face a significantly elevated risk of developing these cancers, sometimes even before age 50.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
BRCA mutations increase the likelihood of developing breast and ovarian cancer. Women with BRCA1 or BRCA2 mutations may have a 50–80% chance of breast cancer by age 80 and a 10–40% chance of ovarian cancer. Men with these mutations may also have an increased risk of prostate cancer. Early detection and preventive strategies, such as regular screenings or surgery, can help manage risk.
Short name
BRCA Gene Mutation Screening (High Resolution)
Frequently asked questions
What does a positive result mean for my health?
Will my results affect my family?
How often will I need follow-up testing or screenings?
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