79419-8
LaboratoryPMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Definition
The coding sequences of PMS2 are amplified by polymerase chain reaction and each PCR product (amplicon) then sequences bidirectionally using Sanger sequencing methodology. The multiple-ligation-probe amplification assay (MLPA) was performed to detect copy number variations (deletions and duplications) in the PMS2 gene. Exact breakpoints are not determined for any large deletions or duplications detected by this analysis.
LOINC 6-Axis Classification
Component
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
PMS2 gene Del+Dup + Full Mut Anl Bld/T
Display Name
PMS2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 79419-8?
LOINC code 79419-8 identifies "PMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". The coding sequences of PMS2 are amplified by polymerase chain reaction and each PCR product (amplicon) then sequences bidirectionally using Sanger sequencing methodology. The multiple-ligation-probe amplification assay (MLPA) was performed to detect copy number variations (deletions and duplications) in the PMS2 gene. Exact breakpoints are not determined for any large deletions or duplications detected by this analysis.
What does 79419-8 measure?
This code measures 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.