Short Description

NGS genetic DNA test detecets for variant and mutation detection in FBLIM1 gene for Kindler syndrome

PreTest Information

Clinical History of Patient who is going for FBLIM1 Gene Kindler syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FBLIM1 Gene Kindler syndrome NGS Genetic DNA Test gene FBLIM1

Detail Description

DNA Labs India: FBLIM1 Gene Kindler Syndrome NGS Genetic DNA Test - Symptoms, Diagnosis, Cost

Kindler syndrome is a rare genetic disorder that affects the skin, mucous membranes, and other organs. It is caused by mutations in the FBLIM1 gene, which provides instructions for making a protein that helps hold skin cells together.

People with Kindler syndrome have skin that is sensitive to trauma and sun exposure, and they may develop blisters, erosions, and scarring. They may also have problems with their eyes, teeth, nails, and digestive system. Symptoms of Kindler syndrome typically appear in infancy or early childhood.

If you or someone you know has symptoms of Kindler syndrome, it is important to get a proper diagnosis. DNA Labs India offers an NGS Genetic DNA Test that can detect mutations in the FBLIM1 gene. This test is a non-invasive way to diagnose Kindler syndrome and other genetic disorders.

Symptoms of Kindler Syndrome

• Blisters and erosions on the skin
• Sensitivity to sun exposure
• Scarring
• Thin and easily damaged skin
• Eye problems, such as photophobia and vision loss
• Tooth and nail abnormalities
• Gastrointestinal problems

Diagnosis of Kindler Syndrome

The diagnosis of Kindler syndrome is based on clinical features and genetic testing. A dermatologist or other medical professional may perform a skin biopsy to look for characteristic changes in the skin. DNA testing can detect mutations in the FBLIM1 gene that are associated with Kindler syndrome.

Cost of NGS Genetic DNA Test at DNA Labs India

The cost of an NGS Genetic DNA Test for Kindler syndrome at DNA Labs India is INR 20,000. This test is performed using state-of-the-art technology and is highly accurate. Results are typically available within a few weeks.

Conclusion

Kindler syndrome is a rare genetic disorder that can cause a range of symptoms affecting the skin, eyes, teeth, nails, and digestive system. If you or someone you know has symptoms of Kindler syndrome, it is important to get a proper diagnosis. DNA Labs India offers an NGS Genetic DNA Test that can detect mutations in the FBLIM1 gene and diagnose Kindler syndrome and other genetic disorders. The cost of this test is INR 20,000.