- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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>.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2004912||MUTYH-Associated Polyposis Specimen||31208-2|
|2006322||MUTYH 2 Mutations Result|
|2006323||MUTYH Sequencing Reflex|
|2006324||MUTYH-Assoc Polyposis w/Reflex Interp|
- MAP 2 Mutations with Reflex to Sequencing
- MYH -Associated Polyposis 2 Mutations with Reflex to Sequencing