Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies
Use
The Rapid Hereditary Breast Cancer Treatment Decision Panel test is useful for establishing a diagnosis of hereditary breast cancer syndrome to facilitate surgical and management decisions. It aids in determining therapeutic eligibility for poly (adenosine diphosphate-ribose) polymerase inhibitors based on gene alterations like BRCA1 and BRCA2. This test is applicable for evaluating patients with breast cancer who have a personal history suggestive of a hereditary breast or gynecological cancer syndrome. It also identifies genetic variants associated with increased breast cancer risk, enabling predictive testing and appropriate screening for at-risk family members.
Special Instructions
This test supports rapid turnaround for patients diagnosed with cancer where results may impact treatment. It is not suitable for those without cancer. Testing minors for adult-onset predisposition syndromes is discouraged. Forms for New York state clients require informed consent for genetic testing.
Limitations
Next-generation sequencing may not detect all genomic variants. False-negative or false-positive results may occur. Regions with homology, high GC content, and repetitive sequences might not be evaluated well. There is potential difficulty in detecting deletions-insertions larger than 40 bp. The test may not detect low levels of mosaicism or differentiate between somatic and germline variants. Additional specimens may be needed if initial DNA yields are inadequate, and some specific gene regions might not be covered routinely.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 97656-3
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 18771-6
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD); acceptable: Green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogeneic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |
