BRCAssure®: BRCA1 Targeted Analysis

Clinical Use

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, 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-GENE (4343) for more information regarding documentation requirements or other questions.

Special Instructions

Not provided.

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.

Test Details

Methodology

NGS (Targeted)

Biomarkers

BRCA1

Gene

SNV/Indel

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

LOINC Codes

Order Codes

21636-6 - BRCA1 gene Mut Anl Bld/T

Result Codes

31208-2 - Specimen source
42349-1
21636-6 - BRCA1 gene Mut Anl Bld/T
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

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.