Holt-Oram syndrome, also known as heart-hand syndrome, is a genetic condition characterized by abnormalities in the hands and arms and heart defects. This condition is caused by mutations in the TBX5 gene. Recognizing the symptoms early and undergoing genetic testing can be crucial for managing and treating the condition effectively. DNA Labs UAE offers a comprehensive TBX5 Gene Holt-Oram Syndrome Genetic Test to help diagnose this condition.
Symptoms of Holt-Oram Syndrome
Holt-Oram syndrome presents a variety of symptoms ranging from mild to severe, affecting the skeletal structure of the upper limbs and the cardiovascular system. The most common symptoms include:
- Abnormalities in the bones of the wrists (carpal bones), which are often underdeveloped or missing.
- Malformations of the thumbs, which can be abnormally developed, triphalangeal, or absent.
- Limited motion in the elbows due to underdeveloped or missing bones.
- Heart defects such as atrial septal defects or ventricular septal defects, which are holes in the walls separating the chambers of the heart.
- Cardiac conduction disease, which affects the electrical system that controls the heartbeat.
These symptoms can vary significantly from one individual to another, even among members of the same family. Some individuals may have mild skeletal abnormalities with no heart defects, while others may experience life-threatening cardiac issues.
Importance of Genetic Testing for Holt-Oram Syndrome
Genetic testing plays a crucial role in diagnosing Holt-Oram syndrome. Identifying a mutation in the TBX5 gene confirms the diagnosis and can assist in guiding treatment and management decisions. Additionally, genetic testing can provide valuable information for family planning and the assessment of risk in future pregnancies. DNA Labs UAE’s TBX5 Gene Holt-Oram Syndrome Genetic Test is a critical tool in diagnosing this condition, offering hope and direction for affected individuals and their families.
Cost of TBX5 Gene Holt-Oram Syndrome Genetic Test
The TBX5 Gene Holt-Oram Syndrome Genetic Test is priced at 4400 AED. While the cost may seem significant, the value of a definitive diagnosis and the guidance it can provide for managing the condition are immeasurable. Early diagnosis and intervention can significantly improve the quality of life for those affected by Holt-Oram syndrome.
Conclusion
Holt-Oram syndrome is a complex condition that requires a comprehensive approach to diagnosis and management. The TBX5 Gene Holt-Oram Syndrome Genetic Test offered by DNA Labs UAE is an essential tool for individuals and families affected by this condition. By understanding the symptoms and undergoing genetic testing, affected individuals can take crucial steps toward effective management and treatment of Holt-Oram syndrome.
For more information on the TBX5 Gene Holt-Oram Syndrome Genetic Test and to schedule a test, please visit https://dnalabsuae.com/tests/tbx5-gene-holt-oram-syndrome-genetic-test/.
