AutoICD API

69481-0

Laboratory

ACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA

Definition

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).

LOINC 6-Axis Classification

Component

ACVRL1 gene+ENG gene deletion+duplication

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

MLPA

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

ACVRL1+ENG gene Del+Dup Bld/T MLPA

Display Name

ACVRL1 gene+ENG gene del and dup mutation analysis MLPA Doc (Bld/Tiss)

Related Names

activin A receptor type II-like 1Activin receptor-like kinase 1ACVRL1+ENG geneACVRLK1ALK1ALK-1AmplificationBloodCD105CD105 AgDelDel+DupDeletionsDocumentDpENDEndoglinFindingFindingsGeneticsHeredityHeritableHHTHHT1HHT2InheritedMolecular pathologyMOLPATHMOLPATH.MUTATIONSORWORW1ORW2Osler-Rendu-Weber syndrome 1Osler-Rendu-Weber syndrome 2Point in timeRandomSerine/threonine-protein kinase receptor R3 precursorSKR3TGF-B superfamily receptor type ITissueTissue, unspecifiedTSR-IWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 69481-0?

LOINC code 69481-0 identifies "ACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA". 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).

What does 69481-0 measure?

This code measures ACVRL1 gene+ENG gene deletion+duplication in Bld/Tiss. It belongs to the MOLPATH.MUT 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.