Laboratory quality assessment of candidate gene panel testing for acute myeloid leukaemia: a joint ALLG / RCPAQAP initiative

Pathology. 2021 Jun;53(4):487-492. doi: 10.1016/j.pathol.2020.08.019. Epub 2020 Dec 4.


Accurate classification of acute myeloid leukaemia (AML) has become increasingly reliant on molecular characterisation of this blood cancer. Throughout Australia and New Zealand massively parallel sequencing (MPS) is being adopted by diagnostic laboratories for the routine evaluation of patients with AML. This technology enables the surveying of many genes simultaneously, with many technical advantages over single gene testing approaches. However, there are many variations in wet and dry lab MPS procedures, which raises the prospect of discordant results between laboratories. This study compared the results obtained from MPS testing of ten diagnostic AML bone marrow aspirate samples sent to eight participating laboratories across Australasia. A reassuringly high concordance of 94% was observed with regard to variant detection and characterisation of pathogenicity. The level of discordance observed, although low, demonstrates the need for ongoing assessment of concordance between diagnostic testing laboratories through quality assurance programs.

Keywords: Genomics; haematology; leukaemia; quality assurance.

Publication types

  • Comparative Study

MeSH terms

  • Australasia
  • Bone Marrow / pathology
  • Genetic Testing
  • Genomics
  • Hematology
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Laboratories / standards*
  • Leukemia, Myeloid, Acute / classification*
  • Leukemia, Myeloid, Acute / diagnosis
  • Leukemia, Myeloid, Acute / pathology
  • Mutation
  • Quality Assurance, Health Care / standards*
  • Sequence Analysis, DNA
  • Virulence