Service evaluation of R90 bleeding and platelet disorders gene panel in thrombocytopenia cases.

Abstract

This study examines the R90 bleeding and platelet disorders gene panel's utility in thrombocytopenia. The study analysed the correlations between the clinical features of patients with thrombocytopenia and genetic outcomes. The diagnostic yield was 46.6% (41/88) for the overall panel for all patients referred locally. Thrombocytopenia >12 months (95% CI = 19.0-191.0, p < 0.01), having a first-degree relative with thrombocytopenia (16 vs. 7, p < 0.01) and a higher platelet count nadir (67.9 ± 35.0 vs. 39.4 ± 33.9 × 10⁹/L, p < 0.05), were associated with genetic variants, suggesting these as indicators for genetic testing. This supports the R90's role in refining genetic testing criteria in thrombocytopenia.