Photo Credit: iStock.com/Tetiana Lazunova
Genomic sequencing identified pathogenic variants in patients with chronic immune thrombocytopenia (ITP), which could help clinicians improve diagnostic accuracy, according to a study published in Blood Advances. The researchers performed whole genome or targeted panel sequencing on peripheral blood samples from 80 patients with chronic ITP using the ThromboGenomics Panel (n=72) and the Genomics of Rare Immune Disorders panel (n=50). In addition, a replication cohort of 73 patients had clinical genomics testing performed with NHS Genomics panel R90 (n=35) or R15 (n=50). Pathogenic or likely pathogenic variants were identified in 11% (CI, 5-20) of the first cohort and 8% to 9% of the replication cohort. Variants of uncertain significance were detected in 32.5% of patients. Genetic findings influenced clinical management, including immunosuppression avoidance (ANKRD26, GP1BB, ETV6, TUBB1, ITGB3) and eligibility for stem cell transplantation (UNC13D).
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