Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.

Objective: Inborn errors of metabolism are complex disorders with huge variability in clinical manifestations. Decreasing cost of whole exome sequencing (WES) in recent years, made it affordable. Therefore, we witnessed an increase in using WES in diagnosis of genetic diseases, including inherited metabolic disorders.

Methods: A systematic search was done in well-known databases including Medline, Google, Cochrane, and PubMed until 1 Oct 2017. We reviewed the articles addressing the use of WES in diagnosis of metabolic and neurogenetic diseases to evaluate its impact in diagnosis of these conditions.

Results: WES is an effective technology with remarkable impact in diagnosis of metabolic and neurologic diseases, especially in complex cases. Diagnostic yield of WES for these conditions has large variety, ranging from 16% to 68% with an increase during recent years. WES can provide fresh valuable information about new disease, new variants and phenotypes. Careful analysis and interpretation of data obtained by WES and precise evaluation of correlation between clinical manifestation and WES findings are necessary to achieve a correct diagnosis.

Conclusion: WES is effective and useful technology for diagnosis of metabolic and neurogenetic diseases, especially in complex or unsolved cases.