Version 2.78

Term Description

This panel contains terms used to report details associated with molecular genetics discrete sequence variation results.
Source: Regenstrief LOINC

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
55208-3 DNA analysis discrete sequence variation panel R 1..*
Indent48018-6 Gene studied [ID] O 0..1
Indent48013-7 Genomic reference sequence [ID] C 0..1
Indent51958-7 Transcript reference sequence [ID] C 0..1
Indent48008-7 Allele name [Identifier] O 0..1
Indent48003-8 DNA sequence variation identifier [Identifier] O 0..1
Indent48004-6 DNA change (c.HGVS) C 0..1
Indent48019-4 DNA change type O 0..1
Indent48005-3 Amino acid change (pHGVS) C 0..1
Indent48006-1 Amino acid change [Type] O 0..1
Indent47999-8 DNA region name [Identifier] O 0..1
Indent53034-5 Allelic state O 0..1
Indent48002-0 Genomic source class [Type] O 0..1
Indent47998-0 DNA sequence variation display name [Text] Narrative O 0..1
Indent53037-8 Genetic variation clinical significance [Imp] C 0..1
Indent53040-2 Genetic variation's effect on drug metabolism C 0..1
Indent51961-1 Genetic variation's effect on drug efficacy C 0..1
Indent69548-6 Genetic variant assessment

Question Cardinality

1..*

Fully-Specified Name

Component
DNA analysis discrete sequence variation panel
Property
-
Time
Pt
System
Bld/Tiss
Scale
-
Method
Molgen

Additional Names

Short Name
DNA analysis discrete seq var Pnl
Display Name
DNA analysis discrete sequence variation panel Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
DNA analysis discrete sequence variation panel, Blood or tissue specimen

Basic Attributes

Class
PANEL.HL7.GENETICS
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Perfil de análisis de ADN variante de secuencia discreta:Propiedades mixtas (sólo paneles):Punto temporal:Sangre o tejido:-:Genética molecular
es-MX Spanish (Mexico) Panel de variación de secuencia discreta de análisis de ADN:-:Punto temporal:Sangre o tejido:-:Genética molecular
fr-FR French (France) Variation de séquence ADN panel:-:Ponctuel:Sang/Tissu:-:Biologie moléculaire
it-IT Italian (Italy) DNA, panel analisi variazione sequenza discreta:-:Pt:Sangue/Tess:-:Molgen
Synonyms: Genetica molecolare Panel analisi della variazione di sequenza discret Panel HL7 genetica Panel variazione di sequenza Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) DNA analyse discrete sequentievariatie panel:-:moment:bloed of weefsel:-:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Painel de variação de análise discreta de DNA sequencial:#N/A:Pt:Sg/Tecido:-:Genética molecular
Synonyms: Positional Variant Panel; Sequence Variant Panel; DNA analysis discrete seq var Pnl; Deoxyribonucleic acid; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; PCR; Molecular genetics; Pan; Panl; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) ДНК анализ дискретная последовательность вариация панель:-:ТчкВрм:Кр/Тк:-:МолГен
Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
zh-CN Chinese (China) DNA 分析 离散序列变异组套:-:时间点:全血/组织:-:分子遗传学类实验室方法
Synonyms: DNA 分析 离散序列变异组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;去氧核糖核酸;脱氧核糖核酸;DNA 分析 离散序列变异组套;DNA 分析 离散序列变异组合 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.HL7.遗传学;HL7 遗传学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目） 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸（Deoxyribonucleic acid，DNA） 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 序列变异组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;位置变体医嘱组;位置变型医嘱组;位置变异医嘱组;位置变种医嘱组;序列变体医嘱组;序列变型医嘱组;序列变种医嘱组 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 血;血液

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=55208-3
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/55208-3