| Interpretive Data: |
Background Information for MUTYH-Associated Polyposis (MUTYH) 2 Mutations:
Characteristics of MUTYH-Associated Polyposis (MAP): Development of colonic polyps (10-100) with the age of diagnosis occurring in the third decade or older.
Incidence: Less than 1 percent of colorectal cancer cases.
Inheritance: Autosomal recessive.
Penetrance: Greater than 99 percent in untreated individuals.
Cause: Pathogenic biallelic MUTYH gene mutations.
Clinical Sensitivity: 85 percent of MUTYH mutations in Caucasians.
Methodology: Targeted testing for the MUTYH gene mutations c.494A>G (Y165C) and c.1145G>A (G382D) by PCR and bidirectional sequencing.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. Mutations in the MUTYH gene, other than Y165C and G382D, are not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
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| CPT Code(s): |
81401
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Cross References: |
Familial Adenomatous Polyposis (MYH-Associated Polyposis (MYH) 2 Mutations)
, MAP (MUTYH-Associated Polyposis) 2 Mutations, MYH-Associated Polyposis 2 Mutations |
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