Molecular and Genetic Medicine

Blood Center of Wisconsin (Versiti), Milwaukee, Wisconsin, USA

Publications

• Research Article   
  Detection of IDH1 and IDH2 Mutations in Patients with Acute Myeloid Leukemia Using Novel, Highly Sensitive Real-Time PCR Assays with Rapid Turnaround Time
  Author(s): Dash DP*, Wise L, Knier A, Boretsky M, Simons J, Berchanskiy D, Indig MA and Joseph AM
  
  Isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) mutations are frequent in acute myeloid leukemia (AML). Here we describe the qualitative polymerase chain reaction (PCR)-based Abbott Realtime IDH1 and IDH2 assays, which detect single nucleotide variants coding for five IDH1 and nine IDH2 mutations. We evaluated the sensitivity and specificity of the Abbott Real-Time IDH1/IDH2 assays and conducted a workflow analysis that compared them with PCR-based Sanger and next-generation sequencing (NGS) assays in blood or bone marrow specimens from 100 AML patients. Sanger sequencing and NGS detected IDH mutations with variant allele sensitivity limits of 20% and 10%, respectively. The Abbott Real-Time IDH1/IDH2 assays demonstrated 100% sensitivity and 95% specificity vs. Sanger sequencing and detecte.. Read More»
  

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