A Comprehensive Next Generation Sequencing Gene Panel Focused on Unexplained Anaemia

Thursday, 14 January, 2016
  • Frances Smith,
  • David Brawand,
  • L. Steedman,
  • Matthew Oakley,
  • C. Wall,
  • P. Rushton,
  • K. Sibson,
  • M. Allchurch,
  • C. Hemmaway,
  • Dr Robin Ireland ,
  • S-L. Thein,
  • D. Rees


Congenital anaemia is difficult to diagnose once common causes have been excluded; for example 80% of congenital non-spherocytic haemolytic anaemia cases are undiagnosed once pyruvate kinase and G6PD deficiencies have been excluded using phenotypic analysis. We have developed a comprehensive Red Cell Gene Panel for the molecular diagnosis of unexplained anaemia and other red blood cell disorders, screening all genes known to be associated with each disorder. The panel is split into several virtual sub-panels to focus analysis, which can be analysed in any combination relevant to the referral.

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