BRCAssureĀ®: Ashkenazi Jewish Panel
Use
To screen for three founder mutations in BRCA1 (c.68_69delAG and c.5266dupC) and BRCA2 (c.5946delT) genes in Ashkenazi Jewish population. These mutations are also known by their previous nomenlcature, namely 187delAG and 5382insC for BRCA1 and 6174delT for BRCA2 gene.
Special Instructions
Not provided.
Limitations
This test does not detect germline mosaicism and will not rule out the presence of large chromosomal aberrations, including rearrangements, gene fusions, or variants in non-targeted regions or genes. Variant classification is subject to change as new information becomes available. Technical handling errors, blood transfusions, bone marrow transplantations, and mislabeling of samples can all lead to false-positive or false-negative results. Interpreting results should be done in conjunction with the patient's personal and family history.
Methodology
NGS (Targeted)
Biomarkers
BRCA1, BRCA2
Gene
LOINC Codes
- 59041-4 - BRCA1+BRCA2 Mut Tested Bld/T
- 31208-2 - Specimen source
- 42349-1
- 21637-4 - BRCA1 c.185delAG Bld/T Ql
- 21640-8 - BRCA2 c.6174delT Bld/T Ql
- 21638-2 - BRCA1 c.5382insC Bld/T Ql
- 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; 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