94230-0
LaboratoryGBA gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequence analysis is performed to test for the presence of a mutation in the GBA gene to confirm a diagnosis of Gaucher disease. Testing may also be performed on at-risk family members when there is a family history of Gaucher disease but a disease-causing mutation has not been previously identified.[GHR gene: GBA]
LOINC 6-Axis Classification
Component
GBA gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH
Order/Observation
Both
Short Name
GBA gene Full Mut Anl Bld/T Seq
Display Name
GBA gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94230-0?
LOINC code 94230-0 identifies "GBA gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis is performed to test for the presence of a mutation in the GBA gene to confirm a diagnosis of Gaucher disease. Testing may also be performed on at-risk family members when there is a family history of Gaucher disease but a disease-causing mutation has not been previously identified.[GHR gene: GBA]
What does 94230-0 measure?
This code measures GBA gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH 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.