Kathryn Sutton¹, Kali Prasad¹, Andrew Broadfoot^1, Karl Baumgart¹, Marina Berbic¹, Melanie Galea^1
1Douglass Hanly Moir Pathology, Sydney, Australia

Autoinflammatory diseases present a group of disorders characterised by recurrent episodes of inflammation, driven by dysregulation of the immune system. The clinical manifestations are diverse and heterogeneous, and often overlap with those of infectious and autoimmune aetiology, which can make complicate diagnosis. The use of Next Generation Sequencing (NGS) technologies, and the identification of monogenetic causes has contributed to the opportunity to diagnose patients with hereditary causes of this inborn error of immunity.  Our genetics laboratory offers a Hereditary Recurrent Fever Panel, which utilises a Massive Parallel Sequencing NGS capture panel to aid in the diagnosis of these patients.  This panel has been recently expanded to test eight genes known to cause hereditary fever syndromes: ADA2, MEFV, MVK, NLRP3, NOD2, PSTPIP1, TNFAIP3 and TNFRSF1A, in line with best practice guidelines. Here we present a retrospective analysis conducted to review the proportion of tests that identified genetic variants, and the proportion of these that were considered disease-causing . We present several cases which highlight the importance of integration of genetic testing into clinical practice and utility of massively parallel sequencing in establishing a molecular diagnosis.