LOINC Code 69481-0: ACVRL1 gene+ENG gene del and dup mutation analysis MLPA 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 ACVRL1 gene+ENG gene deletion+duplication. 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: MLPA

What it does not mean

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

Key facts

• ACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
• ACVRL1 gene+ENG gene deletion+duplication
• This term is used for testing the presence of large genomic duplications and deletions within the ACVRL1 and ENG genes, which are commonly associated with hereditary hemorrhagic telangiectasia (HHT).
• activin A receptor type II-like 1; Activin receptor-like kinase 1; ACVRL1+ENG gene; ACVRLK1; ALK1; ALK-1; Amplification; Blood; CD105; CD105 Ag; Del; Del+Dup; Deletions; Document; Dp; END; Endoglin; Finding; Findings; Genetics; Heredity; Heritable; HHT; HHT1; HHT2; Inherited; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; ORW; ORW1; ORW2; Osler-Rendu-Weber syndrome 1; Osler-Rendu-Weber syndrome 2; Point in time; Random; Serine/threonine-protein kinase receptor R3 precursor; SKR3; TGF-B superfamily receptor type I; Tissue; Tissue, unspecified; TSR-I; 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