Whole Exome Sequencing

The exome is the part of your DNA that contains the instructions for making proteins, the building blocks that keep your body working properly. The Whole Exome Sequencing test closely examines these protein-coding regions to find any changes (mutations) in your genes that might be causing health problems.

This test uses advanced Next-Generation Sequencing (NGS) technology to study thousands of genes at once. It focuses on the most important parts of the genome where most disease-causing mutations occur. Because it looks only at these key regions, it is faster, more detailed, and more cost-effective than sequencing the entire genome.

This test can detect small changes or missing pieces in your DNA and helps doctors identify the genetic cause of inherited or unexplained conditions. It is especially useful when the exact gene causing the disorder is not known or when there is a family history of genetic diseases.

Doctors may recommend the Whole Exome Sequencing (WES) test when a patient shows unexplained medical conditions or complex symptoms that might have a genetic cause. It is particularly advised for individuals with developmental delays, intellectual disabilities, or neurodevelopmental disorders. The test is also useful for those with a personal or family history of hereditary cancer syndromes or other genetic disorders, as well as for patients whose previous genetic tests were inconclusive. Additionally, individuals seeking predictive or preventive health insights based on their genetic profile may benefit from WES. This test helps doctors diagnose rare or complex genetic conditions, understand the underlying cause of unexplained symptoms, assess the risk of hereditary diseases, evaluate the likelihood of passing on genetic conditions to offspring, and guide personalized treatment plans based on specific genetic findings.

For this test, it is important to submit the clinical history, histopathology report, previous test results, and a doctor’s prescription at the time of sample collection. The Tata 1mg consolidated Test Requisition Form (TRF) must also be duly filled and submitted.

Lab test results may vary across different laboratories. Abnormal test results require an expert interpretation. Therefore, never try to self-medicate at home based solely on these results, and always consult a doctor for a proper understanding of the test results.

Note: Post-test genetic counseling can be provided. If interested, please send the request to this email id: [email protected]