Short Description

NGS genetic DNA test detecets for variant and mutation detection in FERMT1 gene for Kindler syndrome

PreTest Information

Clinical History of Patient who is going for FERMT1 Gene Kindler syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FERMT1 Gene Kindler syndrome NGS Genetic DNA Test gene FERMT1

Detail Description

Understanding Kindler Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Kindler Syndrome is a rare genetic disorder that affects the skin, mucous membranes, and internal organs. It is caused by mutations in the FERMT1 gene, which provides instructions for making a protein called kindlin-1. This protein is important for the normal functioning of cells in the skin and other tissues. When it is not functioning properly, it can lead to the symptoms of Kindler Syndrome.

Symptoms of Kindler Syndrome

The symptoms of Kindler Syndrome can vary widely, depending on the severity of the condition. Some of the most common symptoms include:

• Blisters and skin lesions that appear in infancy or early childhood
• Skin that is easily damaged and slow to heal
• Pigmentation changes, such as darkening or lightening of the skin
• Increased risk of skin cancer
• Eye problems, such as conjunctivitis and corneal scarring
• Oral problems, such as gum inflammation and tooth loss
• Difficulty swallowing and gastrointestinal problems

Diagnosis of Kindler Syndrome

Diagnosis of Kindler Syndrome typically involves a physical exam, a review of medical history, and genetic testing. A skin biopsy may also be performed to confirm the diagnosis. Genetic testing is the most reliable way to diagnose Kindler Syndrome and determine the specific mutation in the FERMT1 gene.

NGS Genetic DNA Test Cost for Kindler Syndrome

The cost of an NGS Genetic DNA Test for Kindler Syndrome in India is around INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze the patient's DNA and identify any mutations in the FERMT1 gene. The test can be performed on a blood or saliva sample and is highly accurate.

Conclusion

Kindler Syndrome is a rare genetic disorder that can have a significant impact on a person's quality of life. Early diagnosis and treatment are important for managing the symptoms and preventing complications. If you or someone you know is experiencing symptoms of Kindler Syndrome, it is important to speak with a healthcare provider and consider genetic testing.

DNA Labs India offers NGS Genetic DNA Test for Kindler Syndrome at an affordable cost. Get in touch with us to learn more about our genetic testing services.