BRCAssure®: Ashkenazi Jewish Panel

Clinical Use

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.

Test Details

Methodology

NGS (Targeted)

Biomarkers

BRCA1, BRCA2

Gene

SNV/Indel

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

59041-4 - BRCA1+BRCA2 Mut Tested Bld/T

Result Codes

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

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.