BRCAssureĀ®: BRCA1 Targeted Analysis
Use
This test code is intended for those individuals who have a family member with a known BRCA1 variant and wished to be tested only for that variant. A copy of the positive family member's laboratory report or genetic counseling letter documenting the variant is required for this testing. Only the specific region of the BRCA1 gene containing the familial variant will be tested. If the familial variant is a large deletion or duplication of BRCA1, BRCAssureĀ®: BRCA1 and BRCA2 Deletion/Duplication Analysis [485050] should be ordered. If there is no family member with a known BRCA1 variant or if there is no documentation of the familial variant, BRCAssureĀ®: BRCA1 and BRCA2 Comprehensive Analysis [485030] should be ordered. Please call 800-345-GENE (4343) for more information regarding documentation requirements or other questions.
Special Instructions
A clinical questionnaire and documentation of the familial BRCA1 variant must be submitted along with the specimen. It is important to coordinate testing with CMBP genetics services via contact at 800-345-4363. Utilize Oragene Dx 500 saliva collection kits, which can be ordered through your local Labcorp branch supply department using PeopleSoft No. 87917.
Limitations
The test does not detect germline mosaicism or rule out large chromosomal aberrations, rearrangements, gene fusions, or variants outside the scope of the test. The technologies cannot determine the phase of heterozygous variants in the same gene, and additional parental testing might be needed. False positives and negatives may occur due to pseudogene interference, technical errors, and other factors. Variant interpretation and classification may evolve as more data becomes available, and familial genetic syndromes due to other causes are not excluded. Clinical correlation with personal and family history is essential.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 21636-6
- 31208-2
- 42349-1
- 21636-6
- 56850-1
- 55752-0
- 62385-0
- 77202-0
- 49549-9
- 75608-0
- 72486-4
- 80563-0
Result Turnaround Time
18-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Frozen whole blood; serum; leaking tube; clotted blood; grossly hemolyzed specimen; incorrect anticoagulant; saliva collection in incorrect container.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | Do not freeze |
Other tests from different labs that may be relevant