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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 2mL)

Specimen requirements

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

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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