Understanding the intricacies of genetic conditions is crucial for early diagnosis and effective management. Among these conditions, the Atrioventricular Septal Defect (AVSD) stands out due to its impact on the heart’s structure and function. Specifically, mutations in the GATA6 gene have been linked to AVSD Type 5, a condition that necessitates prompt and accurate diagnosis for optimal care. DNA Labs UAE is at the forefront of providing such diagnostic solutions, offering a specialized genetic test for identifying the GATA6 gene mutations associated with AVSD Type 5.
What is Atrioventricular Septal Defect Type 5?
Atrioventricular Septal Defect Type 5 is a congenital heart defect characterized by a combination of abnormalities affecting the heart’s atrial and ventricular septa and its atrioventricular valves. This condition results from mutations in the GATA6 gene, which plays a critical role in the embryonic development of the heart. Individuals with AVSD Type 5 may experience a range of symptoms, depending on the severity of the defect.
Symptoms of GATA6 Gene Atrioventricular Septal Defect Type 5
The symptoms associated with GATA6 Gene Atrioventricular Septal Defect Type 5 can vary widely but typically include:
- Difficulty breathing or rapid breathing
- Fatigue, especially during physical activity
- Swelling of the legs, feet, or abdomen
- Bluish discoloration of the skin due to poor oxygenation (cyanosis)
- Heart murmurs
- Delayed growth and development in children
It’s important to note that the presence and severity of these symptoms can vary significantly from one individual to another. Early diagnosis and intervention are key to managing the condition effectively and improving the quality of life for those affected.
GATA6 Gene Atrioventricular Septal Defect Type 5 Genetic Test at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test specifically designed to detect mutations in the GATA6 gene associated with AVSD Type 5. This test is a crucial tool for families with a history of congenital heart defects, as well as for individuals who exhibit symptoms suggestive of AVSD Type 5. By identifying the genetic underpinnings of the condition, healthcare providers can tailor management and treatment plans to the specific needs of each patient.
Test Cost
The cost of the GATA6 Gene Atrioventricular Septal Defect Type 5 Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of the information it provides cannot be overstated. Genetic testing can offer peace of mind through early diagnosis, facilitate targeted treatment strategies, and provide crucial information for family planning.
Conclusion
AVSD Type 5 is a complex condition that demands precise diagnosis and comprehensive care. The GATA6 Gene Atrioventricular Septal Defect Type 5 Genetic Test offered by DNA Labs UAE represents a critical step forward in the management of this condition. By enabling early and accurate diagnosis, this test empowers patients and their families to seek the most effective treatments and support services available. For more information about the test and to schedule an appointment, please visit https://dnalabsuae.com/tests/gata6-gene-atrioventricular-septal-defect-type-5-genetic-test/.
