Genetic Test for BRCA1/2 Mutation Detection via Next-Generation Sequencing (NGS) Probe
This test checks for changes (mutations) in the BRCA1 or BRCA2 genes, which are linked to an increased risk of certain cancers, including breast and ovarian cancer.
["A genetic screening to assess cancer risk through gene mutations."]
Key facts at a glance
- LOINC
- 33634-7
- Short code
- MTB RIF res gene Spt NAA+probe
- Synonyms
- MTB RIF res gene Spt NAA+probe
- Category
- chemistry
- Sample
- sputum
- Container
- Sterile sputum container
- Units
- N/A
- Ref low
- 0.8
- Ref high
- 1.2
- Critical range
- — – 5 N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- probe-amp-tar
- CPT
- 85610
- SNOMED
- 396252006
- Specimen volume
- 3-5 mL
- Stability
- Room temperature: 2h, Refrigerated: 24h
- TAT
- 4–24 hours
- Order
- routine
What This Test Measures
The test uses a specialized probe to detect mutations in the BRCA1 and BRCA2 genes. These genes are responsible for producing proteins that help repair damaged DNA. Mutations in these genes can increase the risk of hereditary breast and ovarian cancer.
Why It’s Done
Your healthcare provider may recommend this test if you have a strong family history of breast or ovarian cancer, or if you have been diagnosed with certain cancers at a younger age. It can also be part of a cancer risk assessment or screening program.
Sample Collection and Process
A blood sample is typically taken from you to collect DNA. The DNA is then analyzed using advanced genetic sequencing technology to identify any mutations in the BRCA1 and BRCA2 genes. This process helps determine if you carry a higher risk for hereditary cancer.
What to Expect Before the Test
There are no special preparations needed for this test. You may be asked to avoid certain medications or supplements for a short period before the blood draw, but this will be discussed with your healthcare provider.
Reference range
INR: 0.8-1.2 (warfarin: 2.0-3.0)N/A
Inform your healthcare provider if you are taking blood thinners. No special preparation required.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Finding a BRCA1 or BRCA2 mutation can significantly influence cancer screening and prevention strategies. If you have a mutation, your doctor may recommend more frequent cancer screenings, such as mammograms, CT scans, or ovarian ultrasounds. They may also suggest preventive options like medication or surgery to reduce cancer risk.
Short name
BRCA1/2 Mutation Screen
Frequently asked questions
What does a positive result mean?
What does a negative result mean?
Can this test be done on other types of samples?
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