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
Not provided.
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.
Other tests from different labs that may be relevant