Diagnostic kit for acute myeloid leukemia and myelodysplasia

Technology description

Acute myeloid leukemias and myelodysplasias are a heterogeneous group of haematological diseases with high incidence for which somatic mutations of the IDH2 gene have been described with a diagnostic and prognostic significance. The object of this invention is a diagnostic kit able to identify quickly, accurately and economically, 2 the most frequent IDH2 gene mutations. This diagnostic kit is based on PNA-PCR Clamping, which is a PCR test that uses peptidonucleic acids (PNA) in addiction to the amplification primers. PNA molecules inhibit DNA amplifications. In particular, this diagnostic kit involves two PCR to detect the two most frequent mutations, respectively, of the IDH2 gene. If the IDH2 gene is not mutated, PNA binds DNA and the amplification of the DNA is suppressed. Conversely, if the IDH2 gene is mutated, the DNA doesn’t bind PNA and so the DNA is specifically amplified. The PNA-PCR Clamping method is a valid alternative to conventional methods used for the evaluation of these two frequent mutations of the IDH2 gene in patients with Acute myeloid leukemia or myelodysplasia. This methods is more economic, more sensitive and more rapid compared for example to Sanger Sequencing and it can also be reproduced in laboratories not equipped for sophisticated analysis.


Evaluation of R140Q and R172K mutations of the IDH2 gene by:

  • Molecular biology diagnostic laboratories
  • Research laboratories
Key advantages
  • Identification of IDH2 mutations with two PCR
  • Sensitive and accurate
  • Quick: about 3 hours
  • Economic: around € 3
  • High number of samples that can be analyzed
  • Easy interpretation
  • Within the reach of all laboratories
  • Applicable to any DNA sample
Filing date and application number

Filing date: 03/10/2019

Application number: 102019000017840



  • Università degli Studi di Torino