LOINC
Version 2.66

48004-6DNA change (c.HGVS)Active

Component
DNA change
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA change
Display Name Beta
DNA change Molgen Nom (Bld/Tiss)
Consumer Name Alpha
DNA Change, Blood or Tissue Specimen

Term Description

Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.64
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation" to conform with the balloted HL7 v2 IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

zh-CNChinese (China)
DNA 变化:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
fr-FRFrench (France)
DNA change:Find:Pt:Bld/Tiss:Nom:Molgen
it-ITItalian (Italy)
DNA, cambio:Osservazione:Pt:Sangue/Tess:Nom:Molgen
pt-BRPortuguese (Brazil)
Variação da sequência de DNA:Achado:Pt:Sg/Tecido:Nom:Genética molecular
es-ESSpanish (Spain)
Cambio del ADN:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=48004-6