Downes K, et al. - In this study, a total of 2,396 index patients were sequenced using the ThromboGenomics HTS panel test of diagnostic-grade genes known to harbour variants related to rare bleeding, thrombotic or platelet disorders (BTPD). Using multi-disciplinary team, 745 unique variants, including copy number and intronic variants, were classified as Pathogenic, Likely Pathogenic or Variants of Uncertain Significance. Of these variants, half (50.9%) were new. Researchers found 41 unique variants in 7 genes recently found to be implicated in BTPD. For 894 index patients, a molecular diagnosis has been reported. The benefit of introducing an HTS genetic test as an addition to laboratory diagnostics was evident in patients with a high likelihood of having an inherited BTPD.