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MUTYH-Associated Polyposis (MUTYH) Sequencing
2006191
Ordering Recommendation

Diagnostic or predictive test for MUTYH-associated polyposis. Use if one or no pathogenic variant is found with MUTYH-associated polyposis 2 mutations test.

Mnemonic
MUTYH FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 21 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
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.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
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
: Diagnostic errors can occur due to rare sequence variations. 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.


Note
CPT Code(s)
81406
Components
Component Test Code*Component Chart NameLOINC
2004912MUTYH-Associated Polyposis Specimen31208-2
2006194MUTYH-Assoc Polyposis Sequencing Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • MAP Sequencing
  • MYH-Associated Polyposis Sequencing