A well curated cost-effective next generation sequencing panel identifies a diverse landscape of pathogenic and novel germline variants in bone marrow failure cohort in a resource constraint setting

Current study is a 4 year experience in diagnosis and screening of inherited and immune bone marrow failure cases using a targeted sequencing panel. A total of 171 cases underwent targeted NGS and were categorized as suspected inherited bone marrow failure syndrome (IBMFS) group (106; 62%) and immune/idiopathic aplastic anemia (IAA) group (65; 38%) based on clinical and laboratory criteria. 110 (64%) were pediatric (0-12 years) and 61 (36%) adolescent and adults (13-47 years). In suspected IBMFS group, 47 (44%) and in IAA group, 8 (12%) revealed a likely germline pathogenic variation.

Source: Journal of Molecular Diagnostics - July 17, 2023 Category: Pathology Authors: Swetha Pallavelangini, Gnanamani Senguttuvan, Prateek Bhatia, Prashant Chhabra, Minu Singh, Alka Khadwal, Arihant Jain, Pankaj Sharma, Rozy Thakur, Sreejesh Sreedharanunni, Deepak Bansal, Richa Jain, Srinivasan Peyam, Sonali Mohapatra, Ankur Jindal, Deept Tags: Regular Article Source Type: research