Whole Exome Sequencing (WES) is an advanced genomic technique that focuses on decoding the protein-coding regions of your DNA, known as exons. These exons make up just 1-2% of the human genome but hold 85% of the genetic variations associated with diseases. WES is a precise and cost-effective solution for uncovering genetic mutations linked to health conditions, offering a focused alternative to Whole Genome Sequencing.
Suspected conditions caused by mutations in protein coding genes.
Situations where time, cost, or computational resources are constrained.
Identifying Mendelian disorders or actionable genetic mutations.
Exonic region holds most genetic variations linked to diseases, making it a crucial focus to understand your DNA better as WES has
WES is highly effective at detecting single nucleotide variants (SNVs) and point mutations in coding regions—common culprits behind genetic disorders.
WES identifies genetic variants associated with thousands of disorders caused by mutations in exonic regions, such as:
| Whole Exome Sequencing | Description | Targeted Genetic Screening |
|---|---|---|
| 85% of disease related variants | Coverage | 30% of genome |
| Provides a broad overview of genetic variants across protein coding regions. | Scope of Information | Limited to specific conditions |
| Detects rare, inherited, and complex genetic disorders. | Health Insights | Identifies risks for targeted diseases only |
| Can be re-analyzed as new discoveries are made | Future Use | Limited applicability for future updates unless retested |
| Only once | Frequency of Testing | May need multiple various tests |
85% of known disease-related mutations can be identified to provide insights into:
WES analyzes genetic variations that affect nutrient metabolism, such as how your body processes vitamins like B12, D, and folate, ensuring tailored supplementation and diet plans
WES detects common genetic variants supported by published research. Undiscovered or unreported variants will not be identified or included in the results. Additionally, WES does not account for non-genetic factors such as lifestyle or environment which can also influence treatment outcomes.