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What is a Clinical Exome_Human?

The **Clinical Exome (Human) test** is a comprehensive genetic analysis that examines all protein-coding regions of the human genome, known as the exome. Since most disease-causing mutations occur in these regions, this test is highly effective in identifying genetic variants linked to inherited disorders, rare diseases, and unexplained clinical symptoms. Clinicians recommend it to provide accurate diagnoses, guide personalized treatment strategies, and support genetic counseling for patients and families, making it a powerful tool in precision medicine.

Additional Information

Also known as/ Other names: Clinical Exome Sequencing, Human Clinical Exome Test, Whole Exome Sequencing (Clinical), Clinical Whole Exome Analysis
Parameters: 1
Recommended for: M/F/Others
Sample Type: Blood
Patient Preparation: Minimum gap from Chemotherapy should be 2 weeks
Reports: 4-6 weeks

FAQs

Why is this test performed?

Doctors use it to diagnose unexplained clinical symptoms, detect genetic causes of disease, and guide personalized treatment strategies.

How is the test conducted?

A blood sample is collected, and DNA is sequenced to examine exonic regions for disease‑causing variants.

What does a positive result mean?

It indicates the presence of a genetic mutation that may explain clinical symptoms or predispose to disease.

What does a negative result mean?

No significant mutations were detected, though some genetic causes may remain undetected due to current technology limitations.

Who should undergo this test?

Patients with unexplained medical conditions, suspected genetic disorders, or family history of inherited diseases benefit from this test.

Can this test diagnose rare diseases?

Yes, it is particularly useful for identifying mutations linked to rare and complex genetic disorders.

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