| Interpretive Data: |
Background Information for MUTYH-Associated Polyposis (MUTYH) 2 Mutations with Reflex to 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: Targeted testing for the MUTYH gene mutations c.494A>G (Y165C) and c.1145G>A (G382D) by PCR and bidirectional sequencing. If two mutations are not identified, bidirectional sequencing of the other MUTYH coding regions and intron-exon boundaries is performed.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. MUTYH regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.
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>.
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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| Note: |
Testing for the two targeted MUTYH mutations is performed on all samples. If results do not explain the clinical scenario, then sequencing of the other MUTYH coding regions and intron-exon boundaries is performed. Additional charges apply.
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| CPT Code(s): |
81401; If reflexed add 81406
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Cross References: |
MAP (MUTYH-Associated Polyposis) 2 Mutations with Reflex to Sequencing, MYH -Associated Polyposis 2 Mutations with Reflex to Sequencing |
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