LOINCActiveBoth

LOINC Code 94230-0: GBA gene full mutation analysis Sequencing Doc (Bld/Tiss)

94230-0 is a LOINC code used to identify GBA gene full mutation analysis Sequencing Doc (Bld/Tiss) in laboratory and clinical observation data. You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges. LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component GBA gene full mutation analysis. It is commonly used with the system or sample type Bld/Tiss.

Reviewed by HealthAssure Clinical TeamUpdated 21 May 2026

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component GBA gene full mutation analysis. It is commonly used with the system or sample type Bld/Tiss.

When is it used?

  • Used in lab systems, EHRs, and clinical data exchange.
  • May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
  • Status: ACTIVE
  • Order vs observation: Both
  • Method: Sequencing

What it does not mean

  • The code identifies the observation or test, not the actual result.

Key facts

GBA gene full mutation analysis in Blood or Tissue by Sequencing
GBA gene full mutation analysis
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 geneGBA]
Beta glucosidase gene; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Gaucher disease; GBA1; GBA1 (LL); GC (SP); GCB; Genetics; GLUC; GLUC (LL); Glucocerebrosidase gene; glucosidase, beta, acid; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

GBA gene full mutation analysis Sequencing Doc (Bld/Tiss)GBA gene full mutation analysis in Blood or Tissue by SequencingGBA gene Full Mut Anl Bld/T SeqGBA gene full mutation analysisMOLPATHGBA gene variant analysis, Blood or tissue specimenFind

Frequently asked questions

Code details

Code94230-0
SystemLOINC
Display nameGBA gene full mutation analysis Sequencing Doc (Bld/Tiss)
DescriptionGBA gene full mutation analysis
Short nameGBA gene Full Mut Anl Bld/T Seq
ComponentGBA gene full mutation analysis
PropertyFind
TimingPt
System (specimen)Bld/Tiss
ScaleDoc
MethodSequencing
ClassMOLPATH
StatusACTIVE
Order/ObservationBoth

Flags

BillableNo
Valid clinical useNo

Source

SourceLOINC
Version2.82
Releasemain
First released2.68
Last changed2.68

Consumer names

GBA gene variant analysis, Blood or tissue specimen

Part names

GBA gene full mutation analysisFindPtBld/TissDocSequencingFindingPoint in time (spot)Blood or Tissue

About this content

This page is prepared by HealthAssure's clinical team using official coding standards from LOINC. AI tools assist with drafting explanations, which are then reviewed and verified by healthcare professionals for accuracy. This content is for informational purposes and does not replace professional medical advice. Meet our team.

LOINC Code 94230-0 | HealthAssure