69485-1
LaboratoryLDLR gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Definition
This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the LDLR gene. Mutation analysis only includes testing for the known familial mutation(s).
LOINC 6-Axis Classification
Component
LDLR gene mutation analysis limited to known familial mutations
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
LDLR gene Fam Mut Anl Bld/T
Display Name
LDLR gene familial mut analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 69485-1?
LOINC code 69485-1 identifies "LDLR gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method". This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the LDLR gene. Mutation analysis only includes testing for the known familial mutation(s).
What does 69485-1 measure?
This code measures LDLR gene mutation analysis limited to known familial mutations 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.