Short Description

NGS genetic DNA test detecets for variant and mutation detection in FBN2 gene for Contractural arachnodactyly, congenital

PreTest Information

Clinical History of Patient who is going for FBN2 Gene Contractural arachnodactyly, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FBN2 Gene Contractural arachnodactyly, congenital NGS Genetic DNA Test gene FBN2

Detail Description

FBN2 Gene Contractural Arachnodactyly: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Contractural arachnodactyly is a rare genetic disorder that affects the connective tissue in the body. It is caused by mutations in the FBN2 gene, which provides instructions for making a protein called fibrillin-2. This protein is found in the connective tissue, which gives the body its shape and structure.

Symptoms of FBN2 Gene Contractural Arachnodactyly

The symptoms of FBN2 gene contractural arachnodactyly can vary from person to person. However, some common symptoms include:

• Long, slender fingers and toes
• Bent or crooked fingers and toes
• Abnormal curvature of the spine
• Joint contractures
• Thin, fragile skin
• Stretch marks

Some people with FBN2 gene contractural arachnodactyly may also experience heart problems, such as aortic aneurysms or mitral valve prolapse.

Diagnosis of FBN2 Gene Contractural Arachnodactyly

Diagnosing FBN2 gene contractural arachnodactyly can be challenging because it is a rare disorder. However, doctors may use a combination of physical exams, medical history, and genetic testing to make a diagnosis.

Genetic testing is the most reliable way to diagnose FBN2 gene contractural arachnodactyly. Next-generation sequencing (NGS) genetic DNA testing can identify mutations in the FBN2 gene with a high degree of accuracy.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for FBN2 gene contractural arachnodactyly in India can vary depending on the laboratory and location. However, on average, the cost of this test is around INR 20,000.

It is important to note that genetic testing may not be covered by insurance, so it is important to check with your insurance provider before undergoing testing.

Conclusion

FBN2 gene contractural arachnodactyly is a rare genetic disorder that affects the connective tissue in the body. Symptoms can vary from person to person, but may include long, slender fingers and toes, joint contractures, and abnormal curvature of the spine. Diagnosis can be challenging, but genetic testing, specifically NGS genetic DNA testing, can provide a reliable diagnosis. The cost of this test in India is around INR 20,000.

If you suspect that you or a loved one may have FBN2 gene contractural arachnodactyly, it is important to speak with a healthcare provider and consider genetic testing.

For more information on genetic testing and DNA labs in India, visit DNA Labs India's website.