81882-3
LaboratoryTSC2 and PKD1 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Definition
Detection of deletions or duplications in the TSC2 gene and the adjacent PKD1 gene in a DNA sample by multiplex ligation probe amplification (MLPA) for the diagnosis of tuberous sclerosis and TSC2/PKD1 contiguous gene syndrome. This term was created for, but not limited in use to, the submitter's kit, MRC Holland MLPA P046-C1 TSC2 probemix.
LOINC 6-Axis Classification
Component
TSC2 gene & PKD1 gene deletion+duplication
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
MLPA
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
TSC2+PKD1 Del+Dup Bld/T MLPA
Display Name
TSC2 and PKD1 gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 81882-3?
LOINC code 81882-3 identifies "TSC2 and PKD1 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA". Detection of deletions or duplications in the TSC2 gene and the adjacent PKD1 gene in a DNA sample by multiplex ligation probe amplification (MLPA) for the diagnosis of tuberous sclerosis and TSC2/PKD1 contiguous gene syndrome. This term was created for, but not limited in use to, the submitter's kit, MRC Holland MLPA P046-C1 TSC2 probemix.
What does 81882-3 measure?
This code measures TSC2 gene & PKD1 gene deletion+duplication in Bld/Tiss. It belongs to the MOLPATH.MUT 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.