55240-6

HBB gene c.251G>A [Presence] in Blood by Molecular genetics method

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Fully-Specified Name

Component: HBB gene.c.251G>A
Property: PrThr
Time: Pt
System: Bld
Scale: Ord
Method: Molgen

Additional Names

Long Common Name: HBB gene c.251G>A [Presence] in Blood by Molecular genetics method
Short Name: HBB c.251G>A Bld Ql
Display Name: HBB gene c.251G>A Molgen Ql (Bld)
Consumer Name Alpha Get Info: HBB gene c.251G>A, Blood

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.27
Last Updated: Version 2.56 (MIN)
Change Reason: Changed Component part from c.G251A to c.251G>A to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
55235-6	Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag	Language	Translation
el-GR	Greek (Greece)	Γονίδιο HBB c.251G>A:PrThr:Pt:Αίμα:Ord:Μοριακή γενετική Synonyms: A C PrThr Γονίδιο Γονίδιο HBB Γονίδιο HBB c.251G>A
es-ES	Spanish (Spain)	Gen HBB c.G251A:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX	Spanish (Mexico)	Gen HBB c.251G> A:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR	French (France)	HBB gène mutation c.251G>A:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT	Italian (Italy)	HBB, gene.c.251G>A:PrThr:Pt:Sangue:Ord:Molgen Synonyms: Gene HBB Gene HBB c.251G>A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL	Dutch (Netherlands)	HBB-gen.c.251G>A:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek Synonyms: HBB gen HBB gen.c.251G>A molgen
pt-BR	Portuguese (Brazil)	HBB gene.c.G251A:#N/A:Pt:SgTotal:Ord:Genética molecular Synonyms: HB Pyrgos; HB Mizumani; Hemoglobin S gene; Sickle cell anemia; Beta globulin gene; Hemoglobin beta chain; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	HBB ген.c.251G>A:PrThr:ТчкВрм:Кр:Пор:МолГен Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR	Turkish (Turkey)	HBB geni.c.251G>A:MevcEşik:Zmlı:Kan:Srl:Molgen Synonyms: Mevcut
zh-CN	Chinese (China)	HBB 基因.c.251G>A: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: A 型 Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血 C 型;丙;丙型依次型;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

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