LOINC Code 69482-8: ENG gene familial mut analysis Molgen Doc (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 ENG gene mutation analysis limited to known familial mutations. 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: Molgen

What it does not mean

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

Key facts

• ENG gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
• ENG gene mutation analysis limited to known familial mutations
• This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the ENG gene. Mutation analysis only includes testing for the known familial mutation(s).
• Blood; CD105; CD105 Ag; Document; END; Endoglin; Fam Mut Anl; Finding; Findings; Genetics; Heredity; Heritable; HHT1; Inherited; LMTED; LTD; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutation; Mutations; Muts; ORW; ORW1; Osler-Rendu-Weber syndrome 1; 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