Short Description

NGS genetic DNA test detecets for variant and mutation detection in EP300 gene for Rubinstein-Taybi syndrome

PreTest Information

Clinical History of Patient who is going for EP300 Gene Rubinstein-Taybi syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EP300 Gene Rubinstein-Taybi syndrome NGS Genetic DNA Test gene EP300

Detail Description

EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder that affects various parts of the body. It is caused by mutations in the EP300 gene, which provides instructions for making a protein called p300. The p300 protein plays a crucial role in the regulation of gene expression, which is the process by which genes are turned on and off in response to the body's needs.

RTS is characterized by distinctive facial features, intellectual disability, broad thumbs and toes, and other physical abnormalities. The severity of the symptoms can vary greatly from person to person, even among those with the same EP300 mutation.

NGS Genetic DNA testing is a powerful tool for diagnosing RTS. It involves sequencing the entire EP300 gene to identify any mutations that may be present. This allows for a more accurate diagnosis than traditional genetic testing methods.

Cost of EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test

In India, the cost of EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test is INR 20000. This cost may vary depending on the testing facility and location.

Symptoms of Rubinstein-Taybi Syndrome

The symptoms of Rubinstein-Taybi Syndrome can vary greatly from person to person, but may include:

• Distinctive facial features, including a prominent forehead, widely spaced eyes, and a broad nose
• Intellectual disability
• Delayed speech and language development
• Short stature
• Broad thumbs and toes
• Scoliosis or other spinal abnormalities
• Heart defects
• Recurrent infections

Diagnosis of Rubinstein-Taybi Syndrome

Diagnosing Rubinstein-Taybi Syndrome can be challenging, as the symptoms can be similar to those of other genetic disorders. However, NGS Genetic DNA testing is a powerful tool for identifying mutations in the EP300 gene that are associated with RTS.

If a child is suspected of having RTS, they may undergo a physical examination, developmental evaluation, and genetic testing to confirm the diagnosis.

Conclusion

Rubinstein-Taybi Syndrome is a rare genetic disorder that can cause a variety of physical and intellectual disabilities. NGS Genetic DNA testing is a powerful tool for diagnosing RTS and identifying mutations in the EP300 gene that may be causing the disorder. If you suspect that you or your child may have RTS, it is important to speak with a healthcare professional to determine the best course of action.

For more information on NGS Genetic DNA testing for Rubinstein-Taybi Syndrome, contact DNA Labs India.