94228-4
LaboratoryMUTYH gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequence analysis, such as by next-generation sequencing and/or Sanger sequencing, are performed to detect pathogenic variants within the MUTYH gene. This test is useful for identifying familial MUTYH mutations to allow for predictive or diagnostic testing as well as confirming a suspected clinical diagnosis of MUTYH-associated polyposis (MAP) in patients with adenomatous polyps or early-onset colorectal cancer.[GHR gene: MUTYH]
LOINC 6-Axis Classification
Component
MUTYH gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH
Order/Observation
Both
Short Name
MUTYH gene Full Mut Anl Bld/T Seq
Display Name
MUTYH gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94228-4?
LOINC code 94228-4 identifies "MUTYH gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis, such as by next-generation sequencing and/or Sanger sequencing, are performed to detect pathogenic variants within the MUTYH gene. This test is useful for identifying familial MUTYH mutations to allow for predictive or diagnostic testing as well as confirming a suspected clinical diagnosis of MUTYH-associated polyposis (MAP) in patients with adenomatous polyps or early-onset colorectal cancer.[GHR gene: MUTYH]
What does 94228-4 measure?
This code measures MUTYH gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.