35295-5

BTK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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Part Descriptions

LP227842-4 BTK gene targeted mutation analysis
Bruton's tyrosine kinase (BTK) plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary immunodeficiency X-linked agammaglobulinemia (XLA) and B cell development and the function of mature B cells. The orally administered irreversible BTK inhibitor ibrutinib is associated with high response rates in patients with relapsed/refractory chronic lymphocytic leukemia (CLL). PMID: 29455639 Source: NCBI PubMed

LP33144-4 BTK gene
The BTK gene (Bruton agammaglobulinemia tyrosine kinase) [HGNC Gene ID:1133] is located on chromosome Xq21.33-q22. The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] [NCBI Gene ID:695] Source: National Center for Biotechnology Information (NCBI) Gene

LP33144-4 BTK gene
Patients with chronic lymphocytic leukemia (CLL) with disease progression treated with ibrutinib has been attributed to histologic transformation or acquired mutations in BTK and PLCG2 genes. PMID: 28049639 Source: PubMed Central

Fully-Specified Name

Component: BTK gene targeted mutation analysis
Property: Prid
Time: Pt
System: Bld/Tiss
Scale: Nom
Method: Molgen

Additional Names

Short Name: BTK gene Mut Anl Bld/T
Display Name: BTK gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: BTK gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.13
Last Updated: Version 2.73
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.
Order vs. Observation: Both
Common Test Rank Get Info: 11573

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Gen BTK Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-AR	Spanish (Argentina)	gen BTK:presencia o identidad:punto en el tiempo:tejido, no especificado:Nominal:genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen BTK:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	BTK gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	BTK, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene BTK Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	BTK 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	BTK-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: BTK gen molgen targeted
pt-BR	Portuguese (Brazil)	BTK análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: AGMX1; AT; ATK; BPK; IMD1; PSCTK1; XLA; Bruton agammaglobulinemia tyrosine kinase gene; Tyrosine-protein kinase gene; Bruton's tyrosine kinase gene; Agammaglobulinaemia tyrosine kinase gene; B cell progenitor kinase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	BTK ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	BTK geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	BTK 基因突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法 Synonyms: AGMX1;AT;ATK;B 细胞祖细胞激酶基因（B cell progenitor kinase gene）;BPK;Bruton Gamma 球蛋白缺乏症酪氨酸激酶基因;Bruton γ球蛋白缺乏症酪氨酸激酶基因;Bruton 丙种球蛋白缺乏症酪氨酸激酶基因;Bruton 氏酪氨酸激酶基因;Bruton 酪氨酸激酶基因;Gamma 球蛋白缺乏症酪氨酸激酶基因;IMD1;PSCTK1;XLA;γ球蛋白缺乏症酪氨酸激酶基因;丙种球蛋白缺乏症酪氨酸激酶基因;酪氨酸蛋白激酶基因;酪氨酸-蛋白激酶基因全血或组织;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;聚合酶链式反应分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答基因突变分析存在;存在与否;特征标识;身份;身份标识时刻;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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