LDLR gene deletion and duplication mutation analysis in Blood or Tissue by MLPA   69486-9

LOINC Code


LOINC code69486-9
nameLDLR 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 LDLR gene to aid in the diagnosis of familial hypercholesterolemia (FH).
statusACTIVE

Fully-Specified Name

componentLDLR 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 nameLDLR 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

Amplification
Blood
Del
Del+Dup
Deletions
Document
Dp
FH
FHC
Finding
Findings
Genetics
Heredity
Heritable
Inherited
LDLCQ2
Low Density Lipoprotein Receptor
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Point in time
Random
Tissue
Tissue, unspecified
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.

demo
request yours today
subscribe
start today
newsletter
free subscription

Thank you for choosing Find-A-Code, please Sign In to remove ads.