Genetic variation clinical significance [Imp]   53037-8

LOINC Code


LOINC code53037-8
nameGenetic variation clinical significance [Imp]
descriptionSingle DNA marker or individual allele interpretation in the context of the assessed genetic disease. Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.
statusACTIVE

Fully-Specified Name

componentGenetic disease sequence variation interpretation
propertyImp  =  Impression/interpretation of study
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
scaleNom  =  Nominal:  Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody.
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameGene dis seq var interp-Imp

Basic Attributes

classHL7.GENETICS
type1  Laboratory
order vs. observationObservation

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.

Member of these Panels

81251-1Complex genetic variant panel
81250-3Discrete genetic variant panel
81250-3Discrete genetic variant panel
81250-3Discrete genetic variant panel
55208-3DNA analysis discrete sequence variation panel
51960-3DNA marker results panel
51975-1Individual allele results panel

History/Usage

test rank11949 of 2000 most commonly performed tests by labs in USA
first released
last updated2.73
last change typeMIN  - change to field other than name
change reasonUpdated LCN per CJM for HL7 CG IG

Related Names

Blood
Dis
Diseases
Dz
Gene dis seq var interp
Genetic
Genetics
Genomic
Heredity
Heritable
HL7.GENETICS
Impression
Impression/interpretation of study
Impressions
Inherited
Interp
Interpret
Interpretation
Interpt
Intrp
Molecular genetics
MOLPATH.GENERAL
Nominal
PCR
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.

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