Version 2.78

Term Description

Detection of an FLT3 internal tandem duplication (ITD) mutation 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
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
FLT3 ITD Dp Bld/T Ql
Display Name
FLT3 gene internal tandem dup Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
FLT3 gene internal tandem duplication analysis, 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 2.54
Last Updated
Version 2.73
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
5549

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: FLT3 Genmutation
es-ES Spanish (Spain) Gen FLT3 duplicación interna en tandem Duplicación:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Duplicación interna en tándem del gen FLT3:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) FLT3 gène duplication ITD:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Doppio gene interno FLT3, duplicazione:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene FLT3 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) FLT3-gen interne tandem duplicatie:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: FLT3 gen FLT3 gen interne tandem molgen
tr-TR Turkish (Turkey) FLT3 geni internal tandem dublikasyon:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: çiftleme Mevcut
zh-CN Chinese (China) FLT3 基因内部串联 复制: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
Synonyms: FL 细胞因子受体前体;FLK2;fms-相关性酪氨酸激酶 3;STK1;STK-1;干细胞酪氨酸激酶 1 FLT3 基因内部串联重复;FLT3 基因内部串联重复突变;FLT3 gene internal tandem duplication;内部串联重复突变;内部串联重复;内部串联突变;internal tandem duplications;ITD 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 全血或组织;血液/组织;血液或组织 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 基因复制;基因重复;重复 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 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79210-1