BRCA1/BRCA2 Genes, Full Gene Analysis, Varies
Use
This test is useful for evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome. It aids in establishing a diagnosis of HBOC syndrome, allowing for targeted cancer surveillance based on associated risks. Additionally, it identifies variants within genes known to be associated with increased risk for HBOC syndrome, facilitating predictive testing of at-risk family members and determining therapeutic eligibility for specific cancer treatments, such as poly(ADP-ribose) polymerase inhibitors.
Special Instructions
Not provided.
Limitations
The test may not detect all types of genomic variants. Next-generation sequencing has limitations such as variable depth of coverage and may not effectively evaluate certain genomic regions, due to homology, high guanine-cytosine content, and repetitive sequences. The test detects 95% of deletions up to 75 base pairs and insertions up to 47 base pairs, but may miss larger delins. Results may be inaccurate in patients with recent transplants or blood transfusions due to donor DNA presence. Single exon resolution might not be achieved in all cases due to technical limitations.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
BRCA1, BRCA2
GeneBRCA1, BRCA2
Gene
LOINC Codes
- 94191-4 - BRCA1+BRCA2 Del+Dup + Full Mut Anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD), green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |