Version 2.77

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

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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=32640-5