MUTYH-Associated Polyposis (MUTYH) Sequencing
2006191
Ordering Recommendation
Diagnostic or predictive testing for MUTYH-associated polyposis.
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.
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