PreTest Information

Detail Description

Whole Exome Sequencing + Chromosomal Microarray Cost in India: INR 42000

Whole Exome Sequencing (WES) and Chromosomal Microarray (CMA) are two diagnostic tests that are often used to determine the genetic basis of a patient's symptoms. These tests are particularly useful in cases where the cause of a patient's symptoms is unknown, and traditional diagnostic methods have failed to yield a diagnosis.

What is Whole Exome Sequencing?

Whole Exome Sequencing is a genetic test that analyzes the exome, which is the part of the genome that encodes the proteins that carry out the body's functions. The exome represents only about 1% of the total genome, but it contains most of the disease-causing mutations. By sequencing the exome, doctors can identify genetic mutations that may be responsible for a patient's symptoms.

What is Chromosomal Microarray?

Chromosomal Microarray is a diagnostic test that looks for structural changes in a patient's chromosomes. These structural changes can include deletions, duplications, and rearrangements of genetic material. These changes can cause a wide range of symptoms, including developmental delays, intellectual disabilities, and birth defects.

How are WES and CMA used together?

WES and CMA are often used together to diagnose patients with complex genetic disorders. By analyzing both the exome and the chromosomes, doctors can get a more complete picture of a patient's genetic makeup. This can help them identify mutations that may have been missed with either test alone.

What is the Cost of WES + CMA in India?

The cost of Whole Exome Sequencing and Chromosomal Microarray in India is INR 42000. This cost includes the sequencing and analysis of both tests. This is a relatively affordable price for these tests, particularly when compared to the cost of similar tests in other countries.

When is WES + CMA used?

WES and CMA are particularly useful in cases where the cause of a patient's symptoms is unknown. These tests are often used when traditional diagnostic methods have failed to yield a diagnosis. They may also be used in cases where a patient's symptoms suggest a genetic disorder, but the specific genetic mutation is unknown.

What are the Benefits of WES + CMA?

There are several benefits to using Whole Exome Sequencing and Chromosomal Microarray together:

• Increased Diagnostic Yield: By using both tests together, doctors can identify more genetic mutations that may be responsible for a patient's symptoms.
• More Comprehensive Analysis: By analyzing both the exome and the chromosomes, doctors can get a more complete picture of a patient's genetic makeup.
• Greater Accuracy: WES and CMA are highly accurate tests, which means that the results are reliable and can be used to make informed treatment decisions.

Conclusion

Whole Exome Sequencing and Chromosomal Microarray are two diagnostic tests that are often used together to diagnose patients with complex genetic disorders. These tests are particularly useful in cases where traditional diagnostic methods have failed to yield a diagnosis. The cost of these tests in India is relatively affordable, making them accessible to more patients. If you or a loved one are experiencing unexplained symptoms, talk to your doctor about whether WES and CMA may be right for you.