79570-8
LaboratoryMLH1+MSH2+MSH6+PMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Gene mutations, deletion and duplication analysis is performed to confirm a clinical diagnosis of Hereditary nonpolyposis colorectal cancer (HNPCC). Genes known to cause HNPCC, including MLH1, MSH2, MSH6 and PMS2, may be amplified by PCR methods and sequenced. Detection of copy number variations (deletions and duplications) may be performed by multiple-ligation-probe amplification assay (MLPA).
LOINC 6-Axis Classification
Component
MLH1+MSH2+MSH6+PMS2 gene deletion+duplication & full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH
Order/Observation
Both
Short Name
MLH1+MSH2+MSH6+PMS2 gn Del+Dup+Ful M
Display Name
MLH1+MSH2+MSH6+PMS2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 79570-8?
LOINC code 79570-8 identifies "MLH1+MSH2+MSH6+PMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". Gene mutations, deletion and duplication analysis is performed to confirm a clinical diagnosis of Hereditary nonpolyposis colorectal cancer (HNPCC). Genes known to cause HNPCC, including MLH1, MSH2, MSH6 and PMS2, may be amplified by PCR methods and sequenced. Detection of copy number variations (deletions and duplications) may be performed by multiple-ligation-probe amplification assay (MLPA).
What does 79570-8 measure?
This code measures MLH1+MSH2+MSH6+PMS2 gene deletion+duplication & 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.