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FLT3 (ITD/TKD) / NPM1 mutation analysis

Category Specialist Integrated Haematological Malignancy Diagnostic Service (SIHMDS) >> Molecular Pathology
Test background

Mutation analysis of the fms-related tyrosine kinase-3 (FLT3) gene and the nucleophosmin-1 gene by PCR and fragment analysis. Detection of these mutations is used in the diagnosis and prognostic classification of MDS/AML patients.

This assay can detect internal tandem duplications (ITDs) as well as mutations in the tyrosine kinase domain (TKD) of the FLT3 gene. FLT3 ITD mutations are caused by duplications or insertions of a portion of the FLT3 gene which results in constitutive auto-phosphorylation and activation of the FLT3. FLT3 TKD mutations are caused by nucleic acid substitutions and/or deletions that result in a change in the amino acid sequence in this highly-conserved catalytic centre.

Clinicial Indications

For diagnostic, prognostic and predictive testing in myeloid malignancies such as AML and MDS.

Sample & container required 4ml Blood or bone marrow in EDTA (lavender/purple top)
Sample volume Minimum - 1 mL blood OR bone marrow
Turnaround time 5 working days (3 working days for new diagnostic AML patients)