A Well-Curated Cost-Effective Next-Generation Sequencing Panel Identifies a Diverse Landscape of Pathogenic and Novel Germline Variants in a Bone Marrow Failure Cohort in a Resource-Constraint Setting

The 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 next-generation sequencing 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. A total of 110 (64%) were pediatric (aged 0 to 12 years) patients and 61 (36%) were adolescent and adult (aged 13 to 47 years) patients.

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