Version 2.78

Term Description

This assay detects the hemoglobin Constant Spring (CS) mutation located in the HBA2 gene on chromosome 16 at position p13.3.[NCBI ClinVar ID: 15624]
Source: Regenstrief LOINC

Fully-Specified Name

Component
HBA2 gene.c.427T>C
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBA2 c.427T>C Bld Ql
Display Name
HBA2 gene c.427T>C Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBA2 gene c.427T>C, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.66
Change Reason
Updated Component name from "HBA2 CS gene" to align with the HGVS recommendations for naming a variant. Also updated the Property from "Arb" to "PrThr" based on the current LOINC model.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55234-9 Alpha thalassemia gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HBA2 c.427T> C:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) HBA2 gene.c.427T> C:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HBA2 gène c.427T>C:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBA2, gene.c.427T>C:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBA2 Gene HBA2 c.427T>C Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBA2-gen c.427T>C:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBA2 gen molgen
pt-BR Portuguese (Brazil) HBA2 CS gene:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: HB Constant Spring; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
zh-CN Chinese (China) HBA2 基因.c.427T>C:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 HBA1;alpha 2 globin;alpha globin;alpha-2 globin;hemoglobin, alpha 2;alpha 2 球蛋白;alpha 球蛋白;alpha-2 球蛋白;血红蛋白, alpha 2;α2 球蛋白;α球蛋白;α-2 球蛋白;血红蛋白, α2 HBA2 基因 c.427T>C 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 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=55237-2