MUTYH-Associated Polyposis (MUTYH) 2 Mutations with Reflex to Sequencing
2006307
Ordering Recommendation
 
Mnemonic
MUTYH RFLX
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 28 days  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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) 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:
Diagnostic errors can occur due to rare sequence variations. 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>.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
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.
CPT Code(s)
81401; If reflexed add 81406
Components
Component Test Code*Component Chart Name
2004912MUTYH-Associated Polyposis Specimen
2006322MUTYH 2 Mutations Result
2006323MUTYH Sequencing Reflex
2006324MUTYH-Assoc Polyposis w/Reflex 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 2 Mutations with Reflex to Sequencing
  • MYH -Associated Polyposis 2 Mutations with Reflex to Sequencing