50996-8

HBB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Descriptions

LP19719-1 HBB gene
Hemoglobin Beta locus (HBB) gene mutation analysis for carrier status determination and diagnosis in hemoglobin S and C disease. Source: Regenstrief Institute

LP19719-1 HBB gene
The HBB gene (hemoglobin, beta) [HGNC Gene ID:4827] is located on chromosome 11p15.5. The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3043] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: HBB gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Long Common Name: HBB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: HBB gene Mut Anl Bld/T
Display Name: HBB gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: HBB gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73 (MIN)
Change Reason: Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation: Both
Common Test Rank Get Info: 7003

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: HBB-Gen Mutationsanalyse
el-GR	Greek (Greece)	Γονίδιο HBB στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Γονίδιο Γονίδιο HBB Εύρεση
es-ES	Spanish (Spain)	Gen HBB Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen HBB:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-CA	French (Canada)	Gène HBB ciblé, analyse de la mutation:Observation:Temps ponctuel:Sang/Tissu:Document:Molgen
fr-FR	French (France)	HBB gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	HBB, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene HBB Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	HBB-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: HBB gen molgen targeted
pt-BR	Portuguese (Brazil)	HBB análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: Hemoglobin S gene; Sickle cell anemia; Beta globulin gene; Hemoglobin beta chain; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	HBB ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	HBB geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
uk-UA	Ukrainian (Ukraine)	HBB ген аналіз цільової мутації:Знахідка:МоментЧасу:Кров/Тканини:Документ:Молекулярна генетика Synonyms: Beta globulin gene; Beta thalessemia; beta-globin; Blood; CD113t-C; Document; Finding; Findings; Genetics; Hemoglobin beta chain; Hemoglobin S gene; hemoglobin, beta; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; Random; Sickle cell anemia; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
zh-CN	Chinese (China)	HBB 基因突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法 Synonyms: 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;黑里克氏贫血临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书全血或组织;血液/组织;血液或组织分子病理学.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;聚合酶链式反应发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论基因突变分析时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片血;血液遗传基因;遗传因子;吉恩;生物基因

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Copyright © 2025 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.