89039-2
LaboratoryMSH2 gene deletion+duplication and full mutation analysis and EPCAM gene exons 8 and 9 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method
Definition
This test includes full sequencing analysis of the MSH2 gene as well as deletions and/or duplication analysis of one or more exons in the MSH2 gene and exons 8 and 9 in the EPCAM gene. Testing is performed for the diagnosis of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer (HNPCC)) and for predictive diagnosis and potential early intervention for at risk family members.
LOINC 6-Axis Classification
Component
MSH2 gene deletion+duplication & full mutation analysis & EPCAM gene exons 8 & 9 deletion+duplication
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH
Order/Observation
Both
Short Name
MSH2 DelDup+Full EPCAM 8+9 DelDup Bld/T
Display Name
MSH2 gene deletion+duplication and full mutation analysis and EPCAM gene exons 8 and 9 del and dup mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 89039-2?
LOINC code 89039-2 identifies "MSH2 gene deletion+duplication and full mutation analysis and EPCAM gene exons 8 and 9 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method". This test includes full sequencing analysis of the MSH2 gene as well as deletions and/or duplication analysis of one or more exons in the MSH2 gene and exons 8 and 9 in the EPCAM gene. Testing is performed for the diagnosis of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer (HNPCC)) and for predictive diagnosis and potential early intervention for at risk family members.
What does 89039-2 measure?
This code measures MSH2 gene deletion+duplication & full mutation analysis & EPCAM gene exons 8 & 9 deletion+duplication 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.