53037-8

LOINC Code


LOINC code53037-8
name
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 In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign.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 nameBlood; 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

Basic Attributes

classHL7.GENETICS
type1  Laboratory
order vs. observationGene dis seq va

Member of these Panels

81250-3
81250-3
81250-3
55208-3
51960-3
51975-1
81251-1

History/Usage

first released
last updated2.73
last change typeMIN  - change to field other than name

Related Names

N

Copyright © 2026 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2026, 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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