ARUP's Laboratory Test Directory

MUTYH-Associated Polyposis (MUTYH) Sequencing : 2006191
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Patient History for MUTYH-Associated Polyposis Testing
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Additional Technical Information


Mnemonic: MUTYH FGS

Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies
Reported: Within 21 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Refrigerated.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Interpretive Data: 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: Rare diagnostic errors can occur due to primer site mutations.  Regulatory region MUTYH 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.
CPT Code(s): 81406
Cross References: MAP (MUTYH-Associated Polyposis) Sequencing, MYH-Associated Polyposis Sequencing