Arthrogryposis Renal Dysfunction and Cholestasis (ARC) syndrome is a rare genetic disorder that affects various parts of the body. Type 2 ARC syndrome is particularly associated with mutations in the VIPAS39 gene. This condition is characterized by congenital joint contractures (arthrogryposis), kidney (renal) dysfunction, and liver (cholestasis) problems. Understanding the symptoms and undergoing genetic testing for VIPAS39 gene mutations can help in managing the condition effectively. DNA Labs UAE offers a comprehensive genetic test for identifying mutations in the VIPAS39 gene associated with ARC syndrome type 2.
Symptoms of VIPAS39 Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 2
Individuals with mutations in the VIPAS39 gene may exhibit a range of symptoms, which can vary in severity. Key symptoms include:
- Arthrogryposis: This refers to joint contractures that are present at birth. Affected individuals may have limited movement in their limbs due to these contractures.
- Renal Dysfunction: Kidney-related issues can manifest in various ways, including reduced kidney function or renal failure. Symptoms may include decreased urine output, swelling, and hypertension.
- Cholestasis: This condition involves reduced or blocked bile flow from the liver, leading to jaundice (yellowing of the skin and eyes), itching, and potentially liver failure.
- Failure to Thrive: Children with ARC syndrome type 2 may experience growth delays or failure to gain weight and grow at the expected rate.
- Neurological Issues: Some individuals may have developmental delays or intellectual disabilities.
- Respiratory Problems: Respiratory difficulties, including recurrent infections and breathing issues, are common.
- Gastrointestinal Issues: Problems with digestion, including diarrhea and malabsorption, may occur.
Genetic Test for VIPAS39 Gene Mutation
DNA Labs UAE provides a genetic test specifically designed to detect mutations in the VIPAS39 gene, which are indicative of ARC syndrome type 2. This test is crucial for confirming the diagnosis, which can aid in the management and treatment of the condition. Early diagnosis through genetic testing can significantly improve the quality of life for individuals with ARC syndrome type 2 by enabling tailored treatments and interventions.
The test involves collecting a small sample of blood or saliva from the individual. The sample is then analyzed in our state-of-the-art laboratory to identify any mutations in the VIPAS39 gene. Our team of genetic experts ensures accurate and reliable results, providing a comprehensive report that can help guide further medical care.
Test Cost
The cost of the VIPAS39 gene arthrogryposis renal dysfunction and cholestasis type 2 genetic test at DNA Labs UAE is 4400 AED. This price includes the collection of the sample, analysis, and a detailed report of the findings. We strive to provide this vital service at a competitive price, understanding the importance of accessible genetic testing for rare conditions like ARC syndrome type 2.
Conclusion
ARC syndrome type 2 is a rare but serious genetic disorder that requires early diagnosis and management. DNA Labs UAE is committed to providing accurate genetic testing for the VIPAS39 gene mutation, helping families understand their genetic health and manage the condition effectively. If you suspect you or a family member may be affected by ARC syndrome type 2, we encourage you to learn more about our genetic test and consider getting tested.
