BLM Sequencing and Deletion/Duplication
Also known as: Breast Cancer, Inherited Cancer, Bloom syndrome, Bloom-Torre-Machacek syndrome, Colorectal Cancer (CRC)
Use
This test analyzes single‑nucleotide variants, deletions, and duplications in the BLM gene and is indicated for individuals with a suspected diagnosis of Bloom syndrome or those with a personal or family history of colorectal cancer. Informed consent following genetic counseling is strongly recommended. The clinical interpretation includes results categorized as pathogenic or likely pathogenic variants, variants of uncertain clinical significance (VUS), or absence of such variants, with implications based on personal and family history and variant updates available via Quest’s VariantIQ resource.
Special Instructions
Sample reports and information about specific variants tested are available on QuestHereditaryCancer.com. If a familial mutation is known, the Hereditary Cancer Single Site(s) test (code 93945) may be considered. Genetic counseling and informed consent strongly recommended. Coverage and out‑of‑pocket costs are verified upon receipt of a completed order; if anticipated responsibility exceeds $100, the ordering provider or patient is notified prior to testing.
Limitations
Limitations are described in the methods and limitations section of the genetic testing report; VUS interpretation may change over time as scientific understanding evolves, and annual review of variant classification is encouraged. This assay may not detect all variant types not specifically included in its targeting strategy (such as deep intronic variants, structural rearrangements, or mosaicism), as detailed in report sections.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Not provided.