Version 2.78

Term Description

Detection of the single-point mutation, T315I, in the ABL1 gene within the BCR-ABL1 fusion transcript. Early detection of T315I mutation in patient's with chronic myeloid leukemia (CML) could inform alternative treatment before resistance is detected cytogenetically or before disease progression become evident. Mutations in the kinase domain of the BCR-ABL1 fusion are the leading cause of acquired imatinib resistance. Although mutations have been identified in more than 30 different amino acids, the highest degree of resistance is found to be associated with the T315I mutation.
Source: Regenstrief LOINC

Fully-Specified Name

Component
ABL1 gene.c.944C>T
Property
PrThr
Time
Pt
System
Bld/Bone mar
Scale
Ord
Method
Molgen

Additional Names

Short Name
ABL1 c.944C>T Bld/Mar Ql
Display Name
ABL1 gene c.944C>T Molgen Ql (Bld/BM)
Consumer Name Alpha Get Info
ABL1 gene c.944C>T, Blood Or Bone marrow

Example Answer List: LL360-9

Source: Regenstrief Institute
Answer Code Score Answer ID
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.69
Last Updated
Version 2.69
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen ABL1 c.944C> T:PrThr:Punto temporal:Sangre o Médula osea:Ord:Genética molecular
es-MX Spanish (Mexico) Gen ABL1 c. 944C> T:Presencia o umbral:Punto temporal:Sangre o Médula:Ordinal:Genética molecular
fr-FR French (France) ABL1 gène.c.944C>T:Présence/Seuil:Ponctuel:Sang/Moelle osseuse:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) ABL1, gene.c.944C>T:PrThr:Pt:Sangue/Mid os:Ord:Molgen
Synonyms: Gene ABL1 c.944C>T Genetica molecolare Midollo osseo Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Midollo
nl-NL Dutch (Netherlands) ABL1-gen.c.944C>T:aanwezigheid:moment:bloed of beenmerg:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen
zh-CN Chinese (China) ABL1 基因.c.944C>T:存在情况或阈值:时间点:全血/骨髓:序数型:分子遗传学类实验室方法
Synonyms: ABL C 型;丙;丙型 JTK7 p150 v-abl Abelson murine leukemia viral oncogene homolog 1 v-abl Abelson 小鼠白血病病毒癌基因同源体 1 v-abl Abelson 小鼠白血病病毒肿瘤基因同源体 1 v-abl Abelson 小鼠白血病病毒致癌基因同源体 1 v-abl Abelson 鼠科动物白血病病毒致癌基因同源体 1 v-abl Abelson 鼠科白血病病毒致癌基因同源体 1 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 全血或骨髓;血液/骨髓;血液或骨髓 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 骨骼;骨头 髓

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=95550-0