In the realm of genetic testing and diagnosis, advancements have been remarkable, especially in identifying and understanding rare genetic disorders. One such condition that has garnered attention in the medical community is Arterial Calcification due to Deficiency of CD73 (ACDC), also known as Generalized Arterial Calcification of Infancy type 2 (GACI type 2), attributed to mutations in the ABCC6 gene. At DNA Labs UAE, we offer a comprehensive genetic test specifically designed to detect mutations in the ABCC6 gene, which is crucial for the diagnosis of this rare condition.
Understanding ABCC6 Gene Arterial Calcification Type 2 Generalized Infantile
ABCC6 gene mutations lead to a rare genetic disorder characterized by widespread arterial calcification during infancy. This condition is not only rare but also severe, affecting the cardiovascular system significantly. The ABCC6 gene plays a vital role in regulating the amount of calcium and phosphate in the body. Mutations in this gene disrupt this balance, leading to abnormal calcium deposits in the walls of the arteries, which can cause numerous complications.
Symptoms of ABCC6 Gene Arterial Calcification Type 2 Generalized Infantile
The symptoms of this condition can vary significantly among affected individuals but generally include:
- Respiratory Distress: Infants may experience difficulty breathing due to the stiffening of arteries supplying the lungs.
- Hypertension: High blood pressure is common due to the reduced elasticity of the arteries.
- Heart Problems: Including heart attacks and heart failure, even in very young patients, due to reduced blood flow caused by arterial calcification.
- Reduced Blood Flow to Limbs: This can lead to pain, claudication, and even gangrene in severe cases.
- Feeding Difficulties and Failure to Thrive: Infants may have trouble gaining weight and growing at a normal rate.
It is crucial to diagnose this condition early to manage the symptoms effectively and prevent severe complications.
Genetic Test for ABCC6 Gene Arterial Calcification Type 2 Generalized Infantile at DNA Labs UAE
At DNA Labs UAE, we offer a specialized genetic test designed to detect mutations in the ABCC6 gene, aiding in the diagnosis of Arterial Calcification Type 2 Generalized Infantile. This test is essential for confirming the diagnosis, understanding the severity of the condition, and guiding treatment and management strategies.
Test Cost
The cost of the ABCC6 gene arterial calcification type 2 generalized infantile genetic test is 4400 AED. This investment is crucial for the early diagnosis and management of the condition, potentially saving lives and improving the quality of life for affected individuals.
Conclusion
Understanding and diagnosing rare genetic disorders like ABCC6 gene arterial calcification type 2 generalized infantile is crucial for effective management and treatment. At DNA Labs UAE, we are committed to providing advanced genetic testing services to help diagnose and manage such conditions. For more information and to schedule a test, please visit our website.
For more detailed information about the test and to schedule your appointment, please visit DNA Labs UAE.
