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Abstract

April - June 2021 | Vol. 14 | Issue 2 | 14-15
Rapid Genomic Testing in the Diagnosis of Mendelian Disorders
Vivekananda Bhat
Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education, Manipal
Address for Correspondence Email: vivekanandabhat@yahoo.com
 
Abstract
This study was conducted in Australia to evaluate the feasibility of ultra-rapid exome sequencing in critically ill pediatric patients. A total of 108 sick children with a median age of 28 days, underwent exome sequencing. Fifty five out of 108 patients (51%) received a molecular diagnosis within the median time of 3.3 days. Additional 11 children (20%) received a diagnosis by supplementary genetic tests like copy number analysis of exome data, mitochondrial genome sequencing, RNA analysis and additional phenotyping. Of the 55 patients who received a diagnosis, 42 patients had a significant change in management. Negative results also lead to changes in management in 6 out of 53 (11%) cases. Based on the positivity rate and clinical utility, the authors suggested that ultra-rapid exome sequencing is a feasible testing option in critically ill pediatric patients with suspected monogenic conditions in the Australian public health care system.
 
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