Version 2.78

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
53783-7 HTT gene mutation panel - Blood or Tissue by Molecular genetics method
Indent49637-2 HTT gene allele 1.CAG repeats [Entitic number] in Blood or Tissue by Molecular genetics method O {CAG_repeats}
Indent49638-0 HTT gene allele 2.CAG repeats [Entitic number] in Blood or Tissue by Molecular genetics method O {CAG_repeats}
Indent53782-9 HTT gene CAG repeats [Entitic number] in Blood or Tissue by Molecular genetics method O {CAG_repeats}
Indent21763-8 HTT gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method O
Indent50621-2 HTT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method R

Fully-Specified Name

Component
HTT gene mutation panel
Property
-
Time
Pt
System
Bld/Tiss
Scale
-
Method
Molgen

Additional Names

Short Name
HTT gene mutation Pnl Bld/T
Display Name
HTT gene mutation panel Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
HTT gene mutation panel, Blood or tissue specimen

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.42
Change Reason
Changed gene name from HD to HTT, the current (2012) approved HUGO gene name.
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel de mutaciones del gen HD:Propiedades mixtas (sólo paneles):Punto temporal:Sangre o tejido:-:Genética molecular
es-MX Spanish (Mexico) Panel de mutación del gen HTT:-:Punto temporal:Sangre o tejido:-:Genética molecular
fr-FR French (France) HTT gène mutation panel:-:Ponctuel:Sang/Tissu:-:Biologie moléculaire
it-IT Italian (Italy) HD, panel mutazione gene:-:Pt:Sangue/Tess:-:Molgen
Synonyms: Gene HD Genetica molecolare Panel mutazione del gene HD Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Set di prescrizione patologia molecolare Tessuto & Strisci
nl-NL Dutch (Netherlands) HTT-gen mutatie panel:-:moment:bloed of weefsel:-:moleculair genetisch onderzoek
Synonyms: HTT gen HTT gen mutatie panel molgen
pt-BR Portuguese (Brazil) HD mutação do gene painel:-:Pt:Sg/Tecido:-:Genética molecular
Synonyms: ; HD gene mutation Pnl; Huntington disease; IT15; Huntington chorea; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; PCR; Molecular genetics; Pan; Panl; Mut; Mutations; Molecular pathology
ru-RU Russian (Russian Federation) HTT ген мутация панель:-:ТчкВрм:Кр/Тк:-:МолГен
Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
zh-CN Chinese (China) HTT 基因突变组套:-:时间点:全血/组织:-:分子遗传学类实验室方法
Synonyms: HTT 基因突变组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;HD 基因突变组套;HD 基因突变组合;HD 基因突变医嘱组;Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 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.分子病理学;分子病理学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 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 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 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53783-7
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/53783-7