Arthrogryposis Renal Dysfunction and Cholestasis (ARC) syndrome is a rare genetic disorder that affects multiple body systems, including the joints, kidneys, and liver. Type 2 of this syndrome, specifically linked to mutations in the VIPAS39 gene, presents a unique set of challenges and symptoms for those affected. At DNA Labs UAE, we offer a comprehensive genetic test for this condition, providing crucial information for affected families and their healthcare providers.
Understanding the Symptoms of VIPAS39 Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 2
The symptoms of ARC syndrome type 2 can vary significantly among individuals but typically involve a combination of joint, kidney, and liver problems. One of the most apparent signs is arthrogryposis, a condition characterized by joint contractures that are present at birth. These contractures can significantly limit movement and flexibility in the affected joints, often requiring physical therapy and, in some cases, surgery to improve mobility.
Renal dysfunction in ARC syndrome type 2 can lead to a range of kidney-related issues, from mild to severe. This may include an inability to properly filter waste products from the blood, leading to a buildup of toxins in the body. Symptoms of renal dysfunction can include fatigue, swelling, and difficulties with urination.
Cholestasis, or impaired bile flow from the liver, is another hallmark of ARC syndrome type 2. This can result in jaundice (a yellowing of the skin and eyes), itching, and poor absorption of fat-soluble vitamins, which can lead to deficiencies and related health issues.
Other symptoms associated with this condition may include failure to thrive in infancy, developmental delays, and, in some cases, hearing loss and heart defects. It’s important to note that the severity and combination of symptoms can vary widely among affected individuals.
Genetic Testing for VIPAS39 Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 2
At DNA Labs UAE, we understand the importance of accurate and timely diagnosis for conditions like ARC syndrome type 2. Our genetic test specifically targets the VIPAS39 gene to identify mutations that cause this rare disorder. By analyzing a small sample of blood or saliva, we can provide families and their healthcare teams with critical information that can guide treatment and management decisions.
The cost of the genetic test for VIPAS39 gene-related ARC syndrome type 2 is 4400 AED. While the price may seem significant, the value it provides in terms of guiding patient care and informing family planning decisions cannot be overstated. Early diagnosis and intervention can make a substantial difference in the quality of life for those affected by this condition.
For more information about this test and to schedule an appointment, please visit our website at DNA Labs UAE.
Conclusion
Arthrogryposis Renal Dysfunction and Cholestasis syndrome type 2 is a complex condition that requires a multidisciplinary approach to care. Through the genetic testing services offered at DNA Labs UAE, families affected by this condition can gain a clearer understanding of their situation and access targeted support and interventions. If you or someone you know may be affected by ARC syndrome type 2, we encourage you to reach out for more information about how our genetic testing can help.
