eP083: Chromosomal microarray analysis as a supplement to exome sequencing in pediatric patients with suspected inborn errors of immunity

Inborn errors of immunity (IEI) include over 400 inherited disorders of the immune system with a wide spectrum of clinical manifestations. Many of these disorders are due to single-gene variants that result in the impairment of normal immune function. Identifying the underlying genetic etiology of IEI can help indicate prognosis and direct treatment. We completed exome sequencing (ES) and chromosomal microarray analysis (CMA) for pediatric patients with suspected IEI as part of a larger study. Here we describe the molecular diagnostic contribution of CMA as a supplement to ES.