69479-4
LaboratoryBTK gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Definition
This term is used for confirming a diagnosis of X-linked agammaglobulinemia (XLA) in males and identifying carrier females in families where a BTK mutation has been previously identified in affected individual. Mutation analysis only includes testing for the known familial mutation.
LOINC 6-Axis Classification
Component
BTK 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
BTK gene Fam Mut Anl Bld/T
Display Name
BTK gene familial mut analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 69479-4?
LOINC code 69479-4 identifies "BTK gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method". This term is used for confirming a diagnosis of X-linked agammaglobulinemia (XLA) in males and identifying carrier females in families where a BTK mutation has been previously identified in affected individual. Mutation analysis only includes testing for the known familial mutation.
What does 69479-4 measure?
This code measures BTK 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.