Diagnostic or predictive test for MUTYH-associated polyposis. Use if one or no pathogenic variant is found with MUTYH-associated polyposis 2 mutations test.
Polymerase Chain Reaction/Sequencing
Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months
Background Information for MUTYH-Associated Polyposis (MUTYH) Sequencing:
Characteristics of MUTYH-Associated Polyposis (MAP): Development of colonic polyps (10-100) in the third decade or later.
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: 98 percent of MUTYH mutations.
Methodology: Bidirectional sequencing of the MUTYH coding regions and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region MUTYH mutations, deep intronic mutations, and large deletion/duplications will not be detected. This assay is not designed to detect somatic variants associated with malignancy. Interpretation of this test result may be impacted if the patient has had an allogeneic stem cell transplantation.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2004912||MUTYH-Associated Polyposis Specimen||31208-2|
|2006194||MUTYH-Assoc Polyposis Sequencing Interp|
- MAP Sequencing
- MYH-Associated Polyposis Sequencing