BRCAssure®: BRCA2 Targeted Analysis
Use
This test is intended for those individuals who have a family member with a known BRCA2 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 BRCA2 gene containing the familial variant will be tested. If the familial variant is a large deletion or duplication of BRCA2, BRCAssure®: 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, BRCAssure®: BRCA1 and BRCA2 Comprehensive Analysis [485030] should be ordered. Please call 800-345-4363 for more information regarding documentation requirements or other questions.
Special Instructions
Not provided.
Limitations
This test does not detect germline mosaicism or large chromosomal aberrations like rearrangements, gene fusions, or variants outside the tested regions. It can't determine phase for heterozygous variants in the same gene. The presence of other hereditary cancer syndromes can't be ruled out.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 38530-2 - BRCA2 gene Mut Anl Bld/T
- 38530-2 - BRCA2 gene Mut Anl Bld/T
- 31208-2 - Specimen source
- 42349-1
- 56850-1 - Imp & review of lab results
- 55752-0 - Clinical info
- 62385-0 - Recommendation Patient Doc-Imp
- 77202-0 - Laboratory comment Report
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
- 80563-0 - Report
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.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | Do not freeze |
Other tests from different labs that may be relevant
