32640-5

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

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Part Description

LP30749-3 BLM gene
The BLM gene (Bloom syndrome, RecQ helicase-like) [HGNC Gene ID:1058] is located on chromosome 15q26.1. The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008] [NCBI Gene ID:641] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

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

Additional Names

Long Common Name: BLM gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name: BLM gene Mut Anl Bld/T
Display Name: BLM gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: BLM gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.09
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: 6562

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	análisis de mutación del gen BLM:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES	Spanish (Spain)	Gen BLM Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen BLM:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	BLM gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	BLM, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene BLM 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)	BLM 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	BLM-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: BLM gen molgen targeted
pt-BR	Portuguese (Brazil)	BLM análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Bloom syndrome; BS; RECQ2; RECQL3; 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)	BLM 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)	BLM geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
uk-UA	Ukrainian (Ukraine)	BLM ген аналіз цільової мутації:Наявність або Ідентифікація:МоментЧасу:Кров/Тканини:Категорійно:Молекулярна генетика Synonyms: Blood; Bloom syndrome; Bloom syndrome, RecQ helicase-like; BS; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Random; RECQ2; RECQL2; RECQL3; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
zh-CN	Chinese (China)	BLM 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: Bloom 综合征;BS;RECQ2;RECQL3;布伦氏症候群;布卢姆综合征;布卢姆综合征(特征为矮小,颧骨发育不良,面部毛细血管扩张性红斑);布鲁姆氏综合征;霜粉综合征;霜粉综合征(一种退化性的遗传性皮肤病；多见于东欧犹太人的后裔。患者身材矮小，对日光敏感，故面部常有微血管扩张性红斑) 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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