Short Description

NGS genetic DNA test detecets for variant and mutation detection in VIPAS39 gene for Arthrogryposis, renal dysfunction, and cholestasis type 2

PreTest Information

Clinical History of Patient who is going for VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic DNA Test gene VIPAS39

Detail Description

VIPAS39 Gene Arthrogryposis, Renal Dysfunction, and Cholestasis Type 2 NGS Genetic DNA Test

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare genetic disorder that affects multiple organs and systems in the body. This syndrome is caused by mutations in the VIPAS39 gene, which is involved in the formation and function of a cellular structure called the endosome.

ARC syndrome is characterized by a combination of symptoms including joint contractures (arthrogryposis), kidney dysfunction (renal tubular acidosis), and liver dysfunction (cholestasis). Other symptoms may include growth delay, developmental delay, intellectual disability, and seizures. The severity of symptoms can vary widely between individuals, even among those with the same genetic mutation.

Diagnosis of ARC Syndrome

The diagnosis of ARC syndrome is typically made based on clinical features and confirmed by genetic testing. The VIPAS39 gene can be analyzed using next-generation sequencing (NGS) technology, which allows for the simultaneous analysis of multiple genes. This type of genetic testing can identify mutations in the VIPAS39 gene with high accuracy.

NGS genetic DNA testing for VIPAS39 gene mutations is available at DNA Labs India. The cost of the test is INR 20,000. The test involves collecting a small sample of DNA, typically through a blood or saliva sample, and analyzing it for mutations in the VIPAS39 gene using NGS technology. Results are typically available within 4-6 weeks.

Implications of ARC Syndrome

ARC syndrome is a rare disorder, but it can have significant implications for affected individuals and their families. The symptoms of ARC syndrome can be severe and may require ongoing medical management. Individuals with ARC syndrome may require specialized care from a team of healthcare professionals, including a geneticist, nephrologist, hepatologist, and developmental specialist.

In addition, ARC syndrome is an inherited disorder, which means that individuals with the condition have a 50% chance of passing the mutation on to their children. Genetic testing can help identify carriers of the VIPAS39 gene mutation, which can inform family planning decisions.

Conclusion

VIPAS39 gene mutations are the underlying cause of ARC syndrome, a rare disorder characterized by joint contractures, kidney dysfunction, and liver dysfunction. NGS genetic DNA testing can accurately identify mutations in the VIPAS39 gene, allowing for a definitive diagnosis of ARC syndrome. DNA Labs India offers NGS genetic DNA testing for VIPAS39 gene mutations at a cost of INR 20,000. Early diagnosis and management of ARC syndrome can help improve outcomes for affected individuals and their families.

For more information about NGS genetic DNA testing for VIPAS39 gene mutations, contact DNA Labs India.