Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP6V0A2 gene for Wrinkly skin syndrome

PreTest Information

Clinical History of Patient who is going for ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic DNA Test gene ATP6V0A2

Detail Description

ATP6V0A2 Gene Wrinkly Skin Syndrome NGS Genetic DNA Test

Wrinkly skin syndrome (WSS) is a rare genetic disorder that affects the skin and connective tissues. It is caused by mutations in the ATP6V0A2 gene, which is responsible for encoding a protein that helps transport substances across cell membranes. The disorder is characterized by thick, wrinkled skin on the hands and feet, joint stiffness, and other connective tissue abnormalities.

Symptoms of Wrinkly Skin Syndrome

The most common symptom of WSS is thick, wrinkled skin on the hands and feet. This skin may also be dry and scaly. Other symptoms may include:

• Joint stiffness and limited range of motion
• Delayed growth and development
• Abnormal curvature of the spine (scoliosis)
• Abnormalities of the connective tissues, such as weak ligaments or tendons

Diagnosis of Wrinkly Skin Syndrome

Wrinkly skin syndrome is diagnosed through a combination of physical examination and genetic testing. A doctor will examine the patient's skin and joints, and may order imaging tests such as X-rays or MRI scans to assess bone and connective tissue abnormalities.

A genetic test for the ATP6V0A2 gene mutation is also recommended. This test can confirm the diagnosis of WSS and help determine the type and severity of the mutation.

NGS Genetic DNA Test for ATP6V0A2 Gene Wrinkly Skin Syndrome

Next-generation sequencing (NGS) is a powerful genetic testing technology that allows for the simultaneous analysis of multiple genes, including the ATP6V0A2 gene. NGS testing can identify mutations in the ATP6V0A2 gene that cause WSS, as well as other genetic disorders that may have similar symptoms.

The cost of an NGS genetic DNA test for ATP6V0A2 gene Wrinkly Skin Syndrome in India is approximately INR 20,000.

Conclusion

Wrinkly skin syndrome is a rare genetic disorder that can cause significant physical and developmental challenges for affected individuals. Genetic testing, including NGS testing for the ATP6V0A2 gene mutation, can help diagnose the disorder and guide treatment decisions. If you or someone you know is experiencing symptoms of WSS, speak with your doctor about genetic testing options.