85100-6

FLT3 gene internal tandem duplication [Presence] in Bone marrow by Molecular genetics method

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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.

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

Long Common Name: FLT3 gene internal tandem duplication [Presence] in Bone marrow by Molecular genetics method
Short Name: FLT3 ITD Dp Mar Ql
Display Name: FLT3 gene internal tandem dup Molgen Ql (BM)
Consumer Name Alpha Get Info: 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 (ADD)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: FLT3 Genmutation /KM
el-GR	Greek (Greece)	Εσωτερικός διαδοχικός διπλασιασμός γονιδίου FLT3 διπλασιασμός:PrThr:Pt:Μυελός των οστών:Ord:Μοριακή γενετική Synonyms: PrThr Γονίδιο Γονίδιο FLT3 Εσωτερικός διαδοχικός διπλασιασμός γονιδίου FLT3
es-ES	Spanish (Spain)	Gen FLT3 duplicación interna en tandem Duplicación:PrThr:Punto temporal:Médula ósea:Ord:Genética molecular
es-MX	Spanish (Mexico)	Duplicación interna en tándem del gen FLT3:Presencia o umbral:Punto temporal:Médula ósea:Ordinal:Genética molecular
fr-FR	French (France)	FLT3 gène duplication ITD:Présence/Seuil:Ponctuel:Moelle osseuse:Qualitatif:Biologie moléculaire
it-IT	Italian (Italy)	Doppio gene interno FLT3, duplicazione:PrThr:Pt:Mid oss:Ord:Molgen Synonyms: Gene FLT3 Genetica molecolare Midollo osseo Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	FLT3-gen interne tandem duplicatie:aanwezigheid:moment:beenmerg:ordinaal:moleculair genetisch onderzoek Synonyms: FLT3 gen FLT3 gen interne tandem molgen
tr-TR	Turkish (Turkey)	FLT3 geni internal tandem dublikasyon:MevcEşik:Zmlı:Kem il:Srl:Molgen Synonyms: Mevcut
zh-CN	Chinese (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 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;瞬间遗传基因;遗传因子;吉恩;生物基因骨骼;骨头髓

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Copyright © 2025 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.