Short Description

NGS genetic DNA test detecets for variant and mutation detection in VPS33B gene for Arthrogryposis, renal dysfunction, and cholestasis type 1

PreTest Information

Clinical History of Patient who is going for VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic DNA Test gene VPS33B

Detail Description

VPS33B Gene Arthrogryposis, Renal Dysfunction, and Cholestasis Type 1 NGS Genetic DNA Test

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare genetic disorder that affects various parts of the body. It is caused by mutations in the VPS33B gene, which provides instructions for making a protein that helps transport materials within cells. The symptoms of ARC syndrome can vary widely, but typically include joint contractures (arthrogryposis), kidney problems (renal dysfunction), and liver problems (cholestasis).

Symptoms of VPS33B Gene Arthrogryposis, Renal Dysfunction, and Cholestasis Type 1

ARC syndrome can cause a range of symptoms that affect different parts of the body. Some of the most common symptoms include:

• Joint contractures (arthrogryposis)
• Kidney problems (renal dysfunction)
• Liver problems (cholestasis)
• Abnormalities in the eyes and brain
• Delayed growth and development
• Low muscle tone (hypotonia)
• Respiratory problems
• Feeding difficulties

Diagnosis of VPS33B Gene Arthrogryposis, Renal Dysfunction, and Cholestasis Type 1

Diagnosing ARC syndrome can be challenging, as the symptoms can be similar to those of other conditions. However, a genetic test can help confirm a diagnosis. The VPS33B gene NGS genetic DNA test is a diagnostic tool that can identify mutations in the gene that cause ARC syndrome.

Cost of VPS33B Gene Arthrogryposis, Renal Dysfunction, and Cholestasis Type 1 NGS Genetic DNA Test

The cost of the VPS33B gene NGS genetic DNA test for ARC syndrome in India is typically around INR 20,000. However, the cost may vary depending on the laboratory conducting the test and other factors.

Conclusion

VPS33B gene arthrogryposis, renal dysfunction, and cholestasis type 1 is a rare genetic disorder that can cause a range of symptoms affecting different parts of the body. A genetic test can help confirm a diagnosis, and the cost of the VPS33B gene NGS genetic DNA test for ARC syndrome in India is typically around INR 20,000. If you or someone you know is experiencing symptoms of ARC syndrome, it is important to speak with a healthcare provider to determine the best course of action.