BRCA1 (breast cancer 1) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants (ie, exon 13 del 3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22 del 510bp, exon 8-9 del 7.1kb)
CPT4 code
Name of the Procedure:
BRCA1 Gene Analysis; Full Sequence Analysis and Common Duplication/Deletion Variants (Including Exon 13 del 3.835kb, Exon 13 dup 6kb, Exon 14-20 del 26kb, Exon 22 del 510bp, Exon 8-9 del 7.1kb)
Summary
BRCA1 gene analysis is a genetic test that examines the BRCA1 gene for mutations or changes, including full sequence analysis and detection of common duplication/deletion variants. This test helps identify inherited mutations that increase the risk of developing breast and ovarian cancers.
Purpose
BRCA1 gene analysis is primarily used to:
- Identify individuals at high risk for hereditary breast and ovarian cancers.
- Guide personalized treatment and preventative measures.
- Enable family members to understand their own risk.
Indications
The test is recommended for individuals who:
- Have a family history of breast or ovarian cancer.
- Have multiple family members diagnosed with breast cancer, especially at a young age.
- Are diagnosed with triple-negative breast cancer.
- Have a known BRCA1 mutation in the family.
Preparation
- No special preparation is required.
- Patients might be advised to provide a detailed family medical history.
- Genetic counseling is recommended before and after the test.
Procedure Description
- Sample Collection: A blood sample or a saliva sample is collected.
- DNA Extraction: DNA is extracted from the sample in a laboratory.
- Sequencing and Analysis: The BRCA1 gene is sequenced to identify any mutations. Specific tests for known duplications/deletions (e.g., exon 13 del 3.835kb, exon 13 dup 6kb) are also performed.
- Interpretation: A geneticist or a specialized lab clinician interprets the results.
Duration
The procedure of collecting the sample takes a few minutes. Full sequence analysis and interpretation of results typically take several weeks.
Setting
The sample collection is usually performed in a hospital, outpatient clinic, or specialized genetic testing center. The analysis is conducted in a specialized laboratory.
Personnel
- Genetic counselor
- Phlebotomist or nurse (for sample collection)
- Medical geneticist or laboratory technician
- Oncologist or specialized healthcare provider (for results consultation)
Risks and Complications
- Minimal risk of bleeding or bruising at the sample collection site.
- Psychological impact related to the test results is a consideration.
- Possible insurance and privacy concerns.
Benefits
- Enables early detection and preventative measures for high-risk individuals.
- Allows for personalized treatment plans.
- Helps inform family members about their risk.
Recovery
- There is no physical recovery needed post-sample collection.
- Genetic counseling is recommended to discuss the results and next steps.
- Follow-up appointments may be needed to discuss preventive or treatment plans.
Alternatives
- Other genetic tests focusing on different genes (e.g., BRCA2).
- Regular screening and monitoring without genetic testing.
- Risk-reducing surgeries or medications based on family history and clinical findings.
Patient Experience
- The patient may experience brief discomfort during sample collection.
- Emotional responses to the results are common; support and counseling are advised.
- Psychological support and reassurance regarding privacy and confidentiality of the genetic information can be beneficial.