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BRCA2 Gene Mutation Testing (Germline, Sequencing)

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

This test checks for changes (mutations) in the BRCA2 gene, which can increase your risk of certain cancers, including breast and ovarian cancer.

Quick summary

["Identifying BRCA2 mutations helps guide cancer prevention and early detection strategies."]

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

Key facts at a glance

LOINC
72518-4
Short code
CHEK2
Synonyms
CHEK2 c.470C>T+1100delC Bld/T
Category
chemistry
Sample
whole-blood
Container
EDTA (lavender/purple-top) tube for whole blood; sterile container for tissue specimens. Maintain specimen at 2-8°C during transport.
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
≥ 0 years
Method
molgen
CPT
81215
SNOMED
76619-7
Specimen volume
3-5 mL whole blood in EDTA tube OR minimum 5 mg tissue with high tumor/dna content. Pediatric minimum: 1-2 mL whole blood in EDTA.
Stability
Whole blood: stable at room temperature for 24 hours, refrigerated (2-8°C) for up to 7 days; do not freeze. Extracted DNA: stable at 2-8°C for 1 week, -20°C for long-term storage. Tissue: stable in sterile saline or transport medium at 2-8°C for 24-48 hours.
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
168–720 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, ovarian, prostate, or other related cancers, or if you’ve been diagnosed with certain types of cancer at a younger age. It may also be suggested for individuals with a personal history of certain cancers or genetic syndromes linked to BRCA2 mutations.

What to Expect Before the Test

You’ll typically provide a blood sample, which is drawn from a vein in your arm. The process is quick and usually painless. No special preparation is needed, but discuss any medications or health conditions with your provider beforehand.

What the Results Mean

Results can be categorized as negative (no BRCA2 mutations found), positive (mutations detected), or uncertain (ambiguous results). A positive result means you carry the mutation and may be at higher risk for certain cancers. Discuss results with your healthcare team to understand next steps, such as monitoring, risk-reducing options, or genetic counseling.

Next Steps After Testing

If you test positive, your provider may recommend regular cancer screenings, medications to reduce risk, or referrals to genetic counseling. If negative, ongoing monitoring may still be advised based on your family history and other risk factors.

Reference range

Negative for CHEK2 c.470C>T and 1100delC pathogenic variants. Positive indicates heterozygous or homozygous carrier status for the tested mutation.N/A

Specimen: whole-blood

Informed consent for genetic testing is recommended prior to sample collection. Genetic counseling pre- and post-test is advisable to discuss implications, family planning, and cancer risk management.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

BRCA2 Mutation Test

Frequently asked questions

What does a positive BRCA2 mutation mean for my health?
A positive BRCA2 mutation increases your risk of developing breast, ovarian, prostate, and pancreatic cancers. While not everyone with the mutation will develop cancer, early detection and preventive measures (like medications or surgery) can help manage risk. Your healthcare team will tailor a personalized plan based on your results and family history.
Can I still have children if I have a BRCA2 mutation?
Yes, you can still have children, but genetic counseling can help discuss options for family planning, including preimplantation genetic testing if desired. Some families choose to carry the mutation, while others may explore other reproductive strategies.
How often should I get cancer screenings if I have a BRCA2 mutation?
Your screening schedule depends on your specific mutation and family history. Typically, this may include annual mammograms, pelvic exams, and ovarian ultrasounds. Discuss a personalized plan with your oncologist or genetic counselor to align with your needs and risks.
  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