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Lab Test

Clinical Exome Sequencing

Clinical Exome Sequencing is a comprehensive genetic test that sequences all the protein-coding regions of the genome, known as the exome. It is a highly effective method to identify genetic variants associated with diseases, providing a powerful tool for diagnosing a wide range of genetic disorders.


  • Profile Name: Clinical Exome Sequencing
  • Sample Type: Blood
  • Preparations Required: No special preparation, fasting or water consumption restrictions are required for this test.
  • Report Time: 4 weeks

What is Clinical Exome Sequencing?

Clinical Exome Sequencing is a sophisticated genetic test that sequences and examines the exome – the portion of the genome that codes for proteins. This test can identify changes or mutations in genes associated with genetic disorders.

Why is this test done?

This test is done to diagnose genetic disorders when other tests have been inconclusive, and to provide information for treatment and management of genetic conditions. It can also identify the genetic cause of a condition in a patient, allowing for precise diagnosis.

Home Sample Collection Process
1
Book your convenient slot
Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
Download Reports
Download Reports
Frequently Asked Questions

This test is performed using a blood sample. DNA is extracted from the sample and the exome is sequenced, identifying potential genetic changes that might be associated with disease.

The results can identify changes in genes that are known to cause disease, potentially diagnosing a genetic disorder. However, some results may be uncertain, and some genetic changes may not be understood at the time of testing.

No special preparation is needed for this test. However, you should inform your doctor of any medical conditions or medications you're taking, as these may affect the results.

The risks associated with this test are minimal and are mostly related to the blood draw. These can include pain, light-headedness, or infection at the needle site.

If your test results are abnormal, consult with a geneticist or a genetic counselor who specializes in interpreting genetic test results.

Treatment options depend on the specific genetic disorder identified. These could range from medical treatments to manage symptoms, to lifestyle changes, to preventive measures for conditions that might develop in the future.

Yes, certain medications and other genetic or environmental factors can affect the accuracy of this test. Discuss all of your health conditions and medications with your doctor prior to the test.

No, fasting is not required before this test.

Normal results would indicate no mutations in the exome associated with genetic disorders. However, everyone has some degree of genetic variation, and results should always be interpreted by a specialist.

An abnormal result suggests that there's a genetic mutation associated with a certain disease or condition. However, the interpretation of results can be complex and should always be done by a specialist.

The frequency of this test will depend on your doctor's recommendations, based on your health history, symptoms, and potential genetic risks.

No specific precautions are needed after the test. However, it's important to discuss your results with your doctor, who can guide you on next steps.

Yes, but it's important to inform your doctor about any medications you're taking as they could potentially affect the test results.

No, the test requires a blood draw, which should be done by a healthcare professional in a clinical setting.

Insurance coverage for this test varies, depending on your insurance provider and policy. It's advisable to check with your insurance provider about coverage before taking the test.

Yes, this test can be done on children, especially when there's a suspicion of a genetic disorder.

Yes, drinking water before the test is not restricted.

No, while this test can diagnose many genetic disorders, it doesn't cover all. Some genetic disorders may not be detectable by examining the exome alone.

Clinical Exome Sequencing is a powerful tool in the world of genetic medicine, offering insights into the genetic underpinnings of many diseases. It's essential to discuss the potential implications of the test with your doctor or a genetic counselor to ensure you understand the potential outcomes, benefits, and limitations of the test.

Clinical Exome Sequencing
₹ 38500
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Locations Near You in Hyderabad
  • 4KM from Madhapur
  • 3KM from Banjara Hills
  • 1.9KM from Yusufguda
  • 3KM from Madhura Nagar
  • 5KM from Shaikpet