Description

100× Whole Exome Sequencing (WES) is a comprehensive genetic test that analyzes the protein-coding regions (exons) of nearly all known genes to help identify genetic causes of rare, inherited, complex, or undiagnosed conditions. Unlike targeted genetic tests that examine selected genes or regions, WES evaluates a broad set of coding regions across the genome, providing valuable information to support clinical evaluation, diagnosis, and decision-making. For Comprehensive Genetic Analysis High-depth WES provides detailed analysis of protein-coding regions and can identify genetic variants that may be missed by more limited targeted testing approaches. – Analyzes the protein-coding regions (exons) of nearly all known genes – Detects SNVs and small insertions/deletions – Provides genomic information for rare, complex, atypical, or previously undiagnosed conditions – Supports evaluation of inherited genetic variants across thousands of genes – Enables future reanalysis as new genes, variants, and scientific knowledge become available

Why 100× WES? With approximately 100× average sequencing depth, the test provides high-depth coverage of the exome, supporting sensitive and reliable detection of genetic variation within the validated scope of the assay. The higher sequencing depth provides a detailed assessment of coding regions, where many known disease-causing variants are located, making 100× WES a valuable option for comprehensive genetic evaluation.