69486-9
LaboratoryLDLR gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Definition
This term is used for testing the presence of large genomic duplications and deletions within the LDLR gene to aid in the diagnosis of familial hypercholesterolemia (FH).
LOINC 6-Axis Classification
Component
LDLR 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
LDLR gene Del+Dup Bld/T MLPA
Display Name
LDLR gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 69486-9?
LOINC code 69486-9 identifies "LDLR gene deletion and duplication mutation analysis in Blood or Tissue by MLPA". This term is used for testing the presence of large genomic duplications and deletions within the LDLR gene to aid in the diagnosis of familial hypercholesterolemia (FH).
What does 69486-9 measure?
This code measures LDLR 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.