LOINC
Version 2.72

85100-6FLT3 gene internal tandem duplication [Presence] in Bone marrow by Molecular genetics methodActive

Term Description

Detection of an FLT3 internal tandem duplication (ITD) mutation in bone marrow for the diagnosis of acute myeloid leukemia (AML). The FLT3 wild type alleles produce a fragment that is approximately 327 +/-1 base pair (bp), while alleles containing an ITD mutation will produces a fragment that is approximately >=330 bp.
Source: Regenstrief LOINC

Part Descriptions

LP200463-0   FLT3 gene internal tandem
The FLT3 gene (fms-related tyrosine kinase 3) [HGNC Gene ID:3765] is located on chromosome 13q12. This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015] [NCBI Gene ID:2322] FLT3 mutations occur in approximately 1/3 of patients with AML. About 70% are internal tandem duplications, and the rest are due to variants in the tyrosine kinase domain of FLT3, primarily at Asp835 (D835). [PMID:17124058] Source: Regenstrief LOINC

LP228449-7   FLT3 gene internal tandem duplication
The FLT3 gene (fms-related tyrosine kinase 3) [HGNC Gene ID:3765] is located on chromosome 13q12. This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015] [NCBI Gene ID:2322] FLT3 mutations occur in approximately 1/3 of patients with AML. About 70% are internal tandem duplications, and the rest are due to variants in the tyrosine kinase domain of FLT3, primarily at Asp835 (D835). [PMID:17124058] Source: Regenstrief LOINC

Fully-Specified Name

Component
FLT3 gene internal tandem duplication
Property
PrThr
Time
Pt
System
Bone mar
Scale
Ord
Method
Molgen

Additional Names

Short Name
FLT3 ITD Dp Mar Ql
Display Name
FLT3 gene internal tandem dup Molgen Ql (BM)
Consumer Name Alpha
FLT3 gene internal tandem duplication analysis, Bone marrow

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 2.58
Last Updated
Version 2.58
Order vs. Observation
Both

Language Variants Get Info

zh-CNChinese (China)
FLT3 基因内部串联 复制:存在情况或阈值:时间点:骨髓:序数型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
FLT3-gen interne tandem duplicatie:aanwezigheid:moment:beenmerg:ordinaal:moleculair genetisch onderzoek
fr-FRFrench (France)
FLT3 gène duplication ITD:Présence/Seuil:Ponctuel:Moelle osseuse:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)
Doppio gene interno FLT3 , duplicazione:PrThr:Pt:Mid oss:Ord:Molgen
es-MXSpanish (Mexico)
Duplicación interna en tándem del gen FLT3:Presencia o umbral:Punto temporal:Médula ósea:Ordinal:Genética molecular
es-ESSpanish (Spain)
Gen FLT3 duplicación interna en tandem Duplicación:PrThr:Punto temporal:Médula ósea:Ord:Genética molecular
tr-TRTurkish (Turkey)
FLT3 geni internal tandem dublikasyon:MevcEşik:Zmlı:Kem il:Srl:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=85100-6