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
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