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
14-21 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.

Statement C: Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Hotline History
N/A
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 view this test within the Laboratory Test Directory found at www.aruplab.com
Aliases
  • MAP Sequencing
  • MYH-Associated Polyposis Sequencing