LOINC
Version 2.72

88519-4KIT gene c.2447A>T [Presence] in Blood or Tissue by Molecular genetics methodActive

Part Description

LP265316-2   KIT gene.c.2447A>T
The D816V (c.2447A>T) mutation in exon 17 of the KIT gene on chromosome 4 is associated with systemic mastocytosis (SM) and less commonly gastrointestinal stromal tumors (GIST), acute myeloid leukemia (AML), and germ cell tumors.[PMID:21354053] The vast majority of patients with SM carry the somatic D816V mutation. According to the World Health Organization, the presence of the mutation is one of the minor criteria for a diagnosis of SM. [PMID:28031180] The presence of D816V in multiple cells lines, including mast cells, bone marrow myeloid cells, and lymphoid cells, is also associated with a greater risk of disease progression.[PMID:24750133] Source: Regenstrief LOINC

Fully-Specified Name

Component
KIT gene.c.2447A>T
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
KIT c.2447A>T Bld/T Ql
Display Name
KIT gene c.2447A>T Molgen Ql (Bld/Tiss)
Consumer Name Alpha
KIT gene c.2447A>T, Blood or tissue specimen

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.64
Last Updated
Version 2.64
Order vs. Observation
Both

Language Variants Get Info

zh-CNChinese (China)
KIT 基因.c.2447A>T:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
KIT-gen.c.2447A>T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
fr-FRFrench (France)
KIT gène c.2447A>T:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)
KIT, gene.c.2447A>T:PrThr:Pt:Sangue/Tess:Ord:Molgen
es-MXSpanish (Mexico)
KIT gene.c.2447A> T:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ESSpanish (Spain)
Gen KIT c.2447A>T:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=88519-4