79417-2
LaboratoryPMS2 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Definition
Deletion/duplication testing for PMS2 gene is performed by using the multiple ligation probe amplification (MLPA) platform. The MLPA will detect full PMS2 gene deletions and multiple-exon and single-exon deletions and duplications. Balanced translocations are not detected by this method.
LOINC 6-Axis Classification
Component
PMS2 gene deletion+duplication
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
MLPA
Details
Class
MOLPATH.DELDUP
Order/Observation
Both
Short Name
PMS2 gene Del+Dup Bld/T MLPA
Display Name
PMS2 gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 79417-2?
LOINC code 79417-2 identifies "PMS2 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA". Deletion/duplication testing for PMS2 gene is performed by using the multiple ligation probe amplification (MLPA) platform. The MLPA will detect full PMS2 gene deletions and multiple-exon and single-exon deletions and duplications. Balanced translocations are not detected by this method.
What does 79417-2 measure?
This code measures PMS2 gene deletion+duplication in Bld/Tiss. It belongs to the MOLPATH.DELDUP 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.