Symptoms and Testing information for RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome Genetic Test

Symptoms and Testing information for RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome Genetic Test

Understanding the complexities of genetic conditions is essential for effective diagnosis and treatment. One such rare but significant condition is Thrombocytopenia-Absent-Radius (TAR) Syndrome, linked to mutations in the RBM8A gene. DNA Labs UAE is at the forefront of genetic testing, offering comprehensive evaluations for individuals suspected of having this condition. The RBM8A Gene Thrombocytopenia-Absent-Radius-Syndrome Genetic Test is designed to detect mutations in the RBM8A gene, which are crucial in diagnosing this syndrome. This test is priced at 4400 AED, reflecting the intricate processes involved in ensuring accurate and reliable results.

TAR syndrome is characterized by a unique set of symptoms that can vary in severity among affected individuals. The hallmark features of this condition include the absence of the radius bone in the forearm and a significantly reduced platelet count (thrombocytopenia), which can lead to bleeding complications. However, the spectrum of symptoms is broad, and understanding these can be crucial for early diagnosis and management.

Symptoms of Thrombocytopenia-Absent-Radius Syndrome

The symptoms of TAR syndrome are diverse, affecting various aspects of health and development. Notable symptoms include:

  • Absence of the Radius: One of the most distinctive signs, this refers to the missing bone in the forearm, which can affect one or both arms, leading to difficulties in arm function and appearance.
  • Thrombocytopenia: This condition involves a lower than normal platelet count, increasing the risk of bleeding and bruising easily. Severity can vary, with some individuals experiencing life-threatening bleeds.
  • Heart Defects: Some individuals with TAR syndrome may also have congenital heart defects, which can impact overall health and require specialized care.
  • Cow’s Milk Allergy: An unusual but reported symptom in TAR syndrome is an allergy to cow’s milk, which can lead to dietary restrictions and management challenges.
  • Additional Limb Abnormalities: Besides the absence of the radius, other limb abnormalities can occur, such as phocomelia or hip dislocations, further complicating the clinical picture.

Given the complexity and variability of TAR syndrome, genetic testing becomes a critical tool in confirming the diagnosis. The RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome Genetic Test offered by DNA Labs UAE provides conclusive evidence of the condition, allowing for tailored management and care strategies.

Why Choose DNA Labs UAE for RBM8A Gene Testing?

DNA Labs UAE is a leading provider of genetic testing services, with a commitment to accuracy, reliability, and confidentiality. The cost of the RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome Genetic Test at 4400 AED includes a comprehensive evaluation by our team of experts, ensuring that patients and their families receive the most accurate diagnosis possible. Our state-of-the-art facilities and adherence to international standards of genetic testing make us the preferred choice for patients and healthcare providers alike.

For more information on the RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome Genetic Test and to schedule a consultation, please visit our website.

Understanding your genetic makeup is crucial in navigating the challenges posed by TAR syndrome. With DNA Labs UAE, you can be assured of receiving the highest standard of care and support throughout the testing process. Our team is dedicated to providing you with the insights needed to make informed decisions about your health and the health of your loved ones.

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