LOINC Code 46988-2: GBA gene mutations tested for Molgen Nom (Bld/Tiss)

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 mutations tested for. 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: Observation
• Method: Molgen

What it does not mean

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

Key facts

• GBA gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
• GBA gene mutations tested for
• Beta glucosidase gene; Blood; Gaucher disease; GBA1; GBA1 (LL); GC (SP); GCB; Gene mut tested; Genetics; GLUC; GLUC (LL); Glucocerebrosidase gene; glucosidase, beta, acid; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Tested; Mutation; Muts; Nominal; PCR; Point in time; Random; 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

Frequently asked questions