Whole Exome Sequencing (WES) is an advanced genetic testing approach that analyzes the protein-coding regions of the genome, known as exons. Although these regions represent only a small percentage of the entire genome, they contain the majority of currently known disease-causing genetic variants.

WES is commonly considered when individuals present with unexplained developmental delay, neurological symptoms, seizures, intellectual disability, autism spectrum features, congenital anomalies, or suspected rare genetic disorders. It may also be recommended when previous investigations have not provided a clear diagnosis.

By examining thousands of genes simultaneously, WES can help identify genetic variants that may explain a patient’s clinical presentation and support more informed medical decision-making. In some cases, results may also provide valuable information for family members and future healthcare planning.

At Mass Diagnostics, WES testing is coordinated through trusted international partner laboratories with expertise in advanced genomic analysis. Our team supports patients and physicians throughout the process, including test selection, sample collection coordination, logistics, and report delivery, helping make complex genetic testing more accessible and understandable.