| 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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
|
| CPT Code(s): |
83891 Isolation; 83898 x2 Amplification; 83904 x2 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
|
Cross References: |
Familial Adenomatous Polyposis (MYH-Associated Polyposis (MYH) 2 Mutations)
, MAP (MUTYH-Associated Polyposis) 2 Mutations, MYH-Associated Polyposis 2 Mutations |
![[ image for: Patient History for Familial Adenomatous Polyposis Testing]](icon_77.jpg){kind=icon}