Symptoms and Testing information for TBX5 Full-Length Gene Sequence Analysis Holt-Oram Syndrome Test

Symptoms and Testing information for TBX5 Full-Length Gene Sequence Analysis Holt-Oram Syndrome Test

Holt-Oram syndrome, a genetic condition that affects the development of the bones in the arms and hands as well as the heart, has been a significant focus of genetic research and testing. At DNA Labs UAE, we are committed to providing comprehensive genetic testing services, including the TBX5 Full-Length Gene Sequence Analysis Holt-Oram Syndrome Test. This test is pivotal for diagnosing Holt-Oram syndrome, offering a closer look at the TBX5 gene mutations that cause this condition.

Understanding Holt-Oram Syndrome

Holt-Oram syndrome is primarily characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. The severity and presence of these symptoms can vary widely among affected individuals. The syndrome is caused by mutations in the TBX5 gene, which plays a crucial role in the early development of the heart and upper limbs. Identifying mutations in the TBX5 gene through full-length gene sequence analysis is essential for a definitive diagnosis of Holt-Oram syndrome.

Symptoms of Holt-Oram Syndrome

The symptoms of Holt-Oram syndrome can range from mild to severe and may include:

  • Abnormalities in the bones of the wrists (carpal bones), which are often detectable by X-ray.
  • Underdeveloped or absent thumb.
  • Other skeletal abnormalities of the arms and hands, such as phocomelia or radial ray defects.
  • Cardiac issues, including congenital heart defects like atrial septal defect (ASD) or ventricular septal defect (VSD), and cardiac conduction disease, which affects the electrical system controlling the heart’s rhythm.

It’s crucial for individuals displaying these symptoms to undergo genetic testing to confirm the diagnosis of Holt-Oram syndrome, as the implications for heart health are significant.

The TBX5 Full-Length Gene Sequence Analysis Holt-Oram Syndrome Test

At DNA Labs UAE, we offer the TBX5 Full-Length Gene Sequence Analysis Holt-Oram Syndrome Test, a sophisticated diagnostic tool designed to detect mutations in the TBX5 gene. This test is critical for individuals with a clinical diagnosis or symptoms of Holt-Oram syndrome, as well as for families who may be at risk.

The test is performed using a blood sample, from which DNA is extracted and analyzed for mutations in the TBX5 gene. This comprehensive analysis helps in identifying the specific mutation causing the syndrome, thereby enabling targeted management and treatment strategies.

Test Cost

The cost of the TBX5 Full-Length Gene Sequence Analysis Holt-Oram Syndrome Test at DNA Labs UAE is 7500 AED. While the cost may seem significant, the value of a definitive diagnosis cannot be understated, particularly when it comes to managing the health implications associated with Holt-Oram syndrome.

Why Choose DNA Labs UAE?

DNA Labs UAE is a leader in genetic testing services, offering a wide range of tests for genetic conditions, including the TBX5 Full-Length Gene Sequence Analysis Holt-Oram Syndrome Test. Our state-of-the-art facilities and highly qualified team ensure accurate and reliable test results. Furthermore, our commitment to patient care and support throughout the testing process sets us apart.

For more information on the TBX5 Full-Length Gene Sequence Analysis Holt-Oram Syndrome Test and other services we offer, please visit our website at DNA Labs UAE.

Understanding your genetic health is crucial for managing conditions like Holt-Oram syndrome. With DNA Labs UAE, you can be assured of comprehensive support and accurate diagnostic services to guide you and your family towards better health outcomes.

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