Short Description

NGS genetic DNA test detecets for variant and mutation detection in FBN1 gene for Stiff skin syndrome

PreTest Information

Clinical History of Patient who is going for FBN1 Gene Stiff skin syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FBN1 Gene Stiff skin syndrome NGS Genetic DNA Test gene FBN1

Detail Description

Stiff Skin Syndrome: Understanding FBN1 Gene and NGS Genetic DNA Test

Stiff Skin Syndrome is a rare genetic disorder that affects the connective tissues of the body. It is caused by mutations in the FBN1 gene, which encodes for the fibrillin-1 protein. This protein is essential in the formation of elastic fibers that provide elasticity to the skin, joints, and blood vessels.

Individuals with Stiff Skin Syndrome have a stiffening and hardening of the skin, which restricts movement and causes joint pain. Other symptoms may include short stature, thickened skin, and muscle weakness. Stiff Skin Syndrome is a progressive condition and can lead to severe disability.

Diagnosis of Stiff Skin Syndrome

Diagnosis of Stiff Skin Syndrome can be challenging because of its rarity and similarity to other connective tissue disorders. However, advancements in genetic testing have made it possible to detect mutations in the FBN1 gene accurately.

NGS (Next Generation Sequencing) Genetic DNA Test is a highly sensitive and specific test that can identify mutations in multiple genes simultaneously. This test provides a comprehensive analysis of the genetic makeup of an individual and can detect even the rarest genetic mutations.

The cost of NGS Genetic DNA Test for Stiff Skin Syndrome in India is approximately INR 20,000.

Symptoms of Stiff Skin Syndrome

The symptoms of Stiff Skin Syndrome can vary from person to person. However, some of the common symptoms are:

• Stiffening and hardening of the skin
• Joint pain and stiffness
• Short stature
• Thickened skin
• Muscle weakness

Conclusion

Stiff Skin Syndrome is a rare genetic disorder that can severely impact an individual's quality of life. Early diagnosis is essential to provide appropriate treatment and management. NGS Genetic DNA Test is a highly sensitive and specific test that can accurately detect mutations in the FBN1 gene. The cost of NGS Genetic DNA Test for Stiff Skin Syndrome in India is INR 20,000. If you or someone you know is experiencing symptoms of Stiff Skin Syndrome, it is essential to consult a genetic counselor or healthcare professional for a proper diagnosis and treatment plan.

At DNA Labs India, we offer a comprehensive range of genetic tests, including NGS Genetic DNA Test for Stiff Skin Syndrome. Our team of experienced genetic counselors and healthcare professionals provide personalized genetic counseling and support to our clients. Contact us today to learn more about our genetic testing services.