Exome Analysis
Exome Screening, performed using Next Generation Sequencing (NGS), is designed to identify previously unknown hereditary or polygenic diseases in individuals and couples. Polygenic conditions are those influenced by two or more interacting genes. NGS represents a major advancement in genetic technology, offering unmatched speed and efficiency. Unlike traditional sequencing methods that assess only one gene or a small group of related genes, Exome Screening evaluates key regions from tens of thousands of genes simultaneously, providing a far more comprehensive genetic overview.
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The exome refers to the small portion of our DNA that contains the instructions for making proteins—these regions, called exoms, are where most disease-causing mutations occur. Unlike traditional tests that examine one gene at a time, Exome Screening analyzes the important regions of tens of thousands of genes simultaneously, giving a broader and more accurate picture. International studies show that this test can provide a diagnosis in up to 50% of rare or ultra-rare cases. Once a mutation is identified, further analysis is done to confirm its importance before planning next steps.
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Who Is a Candidate for Exome Screening?
Exome Screening is ideal for individuals or couples who:
- Suspect they may be carriers of a hereditary condition, but the specific disease is unknown
- Have a child previously diagnosed with a genetic disorder
- Have a family history of hereditary disease without a confirmed diagnosis
- Are related by blood (close or distant) and are aware of genetic conditions in the family
- Need evaluation for potential polygenic diseases involving multiple genes
In cases where the genetic disease is already known, Mutation Screening may be recommended instead of Exome Screening.
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What Is Next Generation Sequencing (NGS)?
Next Generation Sequencing is the latest and most powerful genetic technology, allowing DNA to be analyzed at exceptional speed and accuracy.
- Monogenic diseases—caused by a mutation in a single gene—are usually identified with traditional tests like Sanger Sequencing.
- Polygenic diseases, which involve multiple genes working together, are far more complex and common. Until recently, these conditions could not be easily detected.
- NGS has transformed this process by allowing multiple genes and large genetic regions to be tested at the same time, making diagnosis significantly more efficient and comprehensive.