69482-8
LaboratoryENG 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 ENG gene. Mutation analysis only includes testing for the known familial mutation(s).
LOINC 6-Axis Classification
Component
ENG 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
ENG Fam Mut Anl Bld/T
Display Name
ENG gene familial mut analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 69482-8?
LOINC code 69482-8 identifies "ENG 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 ENG gene. Mutation analysis only includes testing for the known familial mutation(s).
What does 69482-8 measure?
This code measures ENG 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.