ACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA   69481-0

LOINC Code


LOINC code69481-0
nameACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
descriptionThis 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).
statusACTIVE

Fully-Specified Name

componentACVRL1 gene+ENG gene deletion+duplication
propertyFind  =  Finding
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodMLPA

Additional Names

short nameACVRL1+ENG gene Del+Dup Bld/T MLPA

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationBoth

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.66
last change typeMAJ  - change to name field other than Component;
change reasonBased on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.

Related Names

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

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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