69483-6
LaboratoryF9 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 hemophilia B (factor IX deficiency) in males and identifying carrier females in families where an F9 (factor IX) mutation has been previously identified in affected individual. Mutation analysis only includes testing for the known familial mutation.
LOINC 6-Axis Classification
Component
F9 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
F9 gene Fam Mut Anl Bld/T
Display Name
F9 gene familial mut analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 69483-6?
LOINC code 69483-6 identifies "F9 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 hemophilia B (factor IX deficiency) in males and identifying carrier females in families where an F9 (factor IX) mutation has been previously identified in affected individual. Mutation analysis only includes testing for the known familial mutation.
What does 69483-6 measure?
This code measures F9 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.