Short Description

NGS genetic DNA test detecets for variant and mutation detection in CREBBP gene for Rubinstein-Taybi syndrome

PreTest Information

Clinical History of Patient who is going for CREBBP Gene Rubinstein-Taybi syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CREBBP Gene Rubinstein-Taybi syndrome NGS Genetic DNA Test gene CREBBP

Detail Description

CREBBP Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test Cost INR 20000

Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder that affects various parts of the body. It is caused by mutations in the CREBBP gene, which provides instructions for making a protein that helps control the activity of other genes. The syndrome is characterized by intellectual disability, distinctive facial features, broad thumbs and toes, and other physical abnormalities.

If you suspect that you or a loved one may have RTS, DNA Labs India offers NGS Genetic DNA Test to help diagnose the condition. Our test costs INR 20000 and can provide accurate results within a short period of time.

Symptoms of Rubinstein-Taybi Syndrome

The symptoms of RTS can vary widely, even among family members with the condition. However, some of the most common symptoms include:

• Intellectual disability
• Distinctive facial features, such as a prominent forehead, low-set ears, and widely spaced eyes
• Broad thumbs and toes
• Short stature
• Eye problems, including crossed eyes and cataracts
• Hearing loss
• Heart defects
• Skeletal abnormalities

Diagnosing Rubinstein-Taybi Syndrome

Diagnosing RTS can be challenging, as its symptoms are similar to those of other genetic disorders. However, DNA testing can help confirm the diagnosis.

At DNA Labs India, we offer NGS Genetic DNA Test for Rubinstein-Taybi Syndrome. This test examines the CREBBP gene and looks for mutations that may be causing the syndrome. Our test is quick and accurate, and can help you get the answers you need.

Cost of NGS Genetic DNA Test for Rubinstein-Taybi Syndrome

The cost of our NGS Genetic DNA Test for Rubinstein-Taybi Syndrome is INR 20000. This includes the cost of sample collection, testing, and analysis. We also provide a detailed report that explains the results of the test.

Conclusion

If you suspect that you or a loved one may have Rubinstein-Taybi Syndrome, it is important to get a diagnosis as soon as possible. DNA Labs India offers NGS Genetic DNA Test for RTS at an affordable cost of INR 20000. Contact us today to schedule your test and get the answers you need.