95550-0

ABL1 gene c.944C>T [Presence] in Blood or Marrow by Molecular genetics method

Active

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.

LOINC Names Get Info

Fully-Specified Name: ABL1 gene.c.944C>T:PrThr:Pt:Bld/Bone mar:Ord:Molgen
Long Common Name: ABL1 gene c.944C>T [Presence] in Blood or Marrow by Molecular genetics method
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

Part Model Get Info

Component
ABL1 gene.c.944C>T
LP419576-6
- Analyte
  ABL1 gene.c.944C>T
  LP419576-6
  - Component Numerator
    ABL1 gene.c.944C>T
    LP419576-6
    - Component Numerator Core
      ABL1 gene.c.944C>T
      LP419576-6
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
PrThr
LP217195-9
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Bone mar
LP7060-9
- System Core
  Bld/Bone mar
  LP7060-9
- Super System
  NULL
Scale
Ord
LP7751-3
Method
Molgen
LP6404-0

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 (ADD)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen ABL1 c.944C>T:Přítomnost nebo práh:Časový bod:Krev/kostní dřeň:Ordinální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο ABL1 c.944C>T:PrThr:Pt:Αίμα/Μυελός των οστών:Ord:Μοριακή γενετική Synonyms: C MOLPATH MOLPATH.MUT Ord PrThr Pt Αίμα Αίμα/Μυελός των οστών Γονίδιο Γονίδιο ABL1 c.944C>T Μοριακή γενετική Μυελός των οστών Οστό
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
pl-PL	Polish (Poland)	ABL1 gene.c.944C>T:granica wykrywalności:punkt w czasie:krew lub szpik kostny:uporządkowany:genetyka molekularna Synonyms: diagnostyka molekularna Gen ABL1 c.944C>T (p.Thr315Ile)
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

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LOINC Copyright

Copyright © 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.