LOINC
Version 2.73

95550-0ABL1 gene c.944C>T [Presence] in Blood or Marrow by Molecular genetics methodActive

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
ABL1 gene c.944C>T, Blood Or Bone marrow

Example Answer List LL360-9

Source: Regenstrief Institute

Answer Code Score Answer ID
Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
Negative Copyright 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

zh-CNChinese (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
nl-NLDutch (Netherlands)
ABL1-gen.c.944C>T:aanwezigheid:moment:bloed of beenmerg:ordinaal:moleculair genetisch onderzoek
fr-FRFrench (France)
ABL1 gène.c.944C>T:Présence/Seuil:Ponctuel:Sang/Moelle osseuse:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)
ABL1, gene.c.944C>T:PrThr:Pt:Sangue/Mid os:Ord:Molgen
es-MXSpanish (Mexico)
Gen ABL1 c. 944C> T:Presencia o umbral:Punto temporal:Sangre o Médula:Ordinal:Genética molecular
es-ESSpanish (Spain)
Gen ABL1 c.944C> T:PrThr:Punto temporal:Sangre o Médula osea:Ord:Genética molecular

LOINC FHIR® API Example - CodeSystem Request Get Info

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