Clinical Exome (80-100x)

The clinical exome is a powerful tool used in medical genetics to diagnose and understand genetic disorders. It focuses on analyzing the coding regions of genes, known as the exome, which represent about 1-2% of the entire human genome. The exonic regions of about 7000 clinically relevant genes are covered in this test. These regions contain the instructions for building proteins, making them highly relevant for identifying disease-causing mutations. By sequencing and examining the clinical exome, clinicians can uncover genetic variations that may be responsible for a patient's condition. This approach is particularly valuable when a specific diagnosis is elusive or when symptoms overlap across different disorders. The clinical exome can provide insights into rare genetic diseases, developmental delays, intellectual disabilities, and other inherited conditions. Its use continues to advance personalized medicine, allowing for more accurate diagnosis, improved prognosis, and targeted therapies tailored to an individual's genetic profile.

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