MUTYH Sequencing and Deletion Duplication
Also known as: MYH Associated Polyposis, MAP
Use
This test is used to identify individuals with autosomal recessive MUTYH-associated polyposis (MAP) syndrome by detecting single‑nucleotide variants, deletions, and duplications in the MUTYH gene, which encodes the DNA repair protein MutY homolog. It is generally indicated for individuals with a personal or family history of ≥20 colorectal adenomas, colorectal cancer, or other gastrointestinal cancer. Informed consent following genetic counseling is strongly recommended, and testing should be offered ideally to the family member with the youngest age of onset of polyps or cancer.
Special Instructions
Not provided.
Limitations
A positive result indicates a pathogenic or likely pathogenic variant in one or two copies of MUTYH; two variants indicate diagnosis of autosomal recessive MAP, but does not diagnose cancer or polyps. A negative result indicates no detected pathogenic or likely pathogenic variants, but clinical suspicion may persist; additional criteria or testing may be considered. Variants of uncertain significance (VUS) reflect unclear or novel variants; variant classification may change over time, and providers are encouraged to check annually (e.g., via VariantIQ). Interpretation relies on current evidence and may evolve. Official reports include methods and limitations; clinical decision-making should consider personal and family history.
Methodology
NGS (Targeted)
Biomarkers
MUTYH
Gene
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