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FLT3 Internal Tandem Duplication (FLT3-ITD) Mutation Detection

Gene name / Alternate gene name

fms-like tyrosine kinase 3, fms related receptor tyrosine kinase 3, CD135, FLK2, STK1 

Lab area
Haematopathology - Molecular
Method and equipment

Fluorescent PCR followed by Capillary Electrophoresis on a 3730xl Genetic Analyzer.

Expected turn-around time
3 Business Days
Specimen type

Bone Marrow Aspirate or Blood in EDTA (Lavender top tube) at room temperature (minimum 2 mL)

Specimen requirements

Bone Marrow Aspirate or Blood in EDTA (Lavender top tube) at room temperature (minimum 2 mL)

Storage and transportation

Keep Specimen at Room Temperature

Shipping information
The Hospital for Sick Children
Rapid Response Laboratory
555 University Avenue, Room 3642
Toronto, ON
Canada
M5G 1X8
Phone: 416-813-7200
Toll Free: 1-855-381-3212
Hours: 7 days/week, 24 hours/day
Background and clinical significance

FLT3-ITD refers to an internal tandem duplication mutation in the FLT3 gene, which is frequently found in acute myeloid leukemia (AML). This mutation leads to a constitutively active FLT3 receptor, contributing to poor prognosis in AML patients. The mutation involves a duplication of a sequence within the FLT3 gene, most commonly in the juxtamembrane domain. FLT3-ITD mutations are a significant factor in determining the prognosis of AML patients. They are associated with a higher risk of relapse, shorter remission duration, and poorer overall survival. The FLT3-ITD allelic ratio (AR) is a measure of the amount of mutant FLT3 DNA compared to the normal (wild-type) DNA. A higher AR is generally associated with a poorer prognosis. The presence of FLT3-ITD mutation is an important consideration in determining the appropriate treatment strategy for AML patients, including the use of targeted therapies and hematopoietic stem cell transplantation. 

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