Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYLD gene for Spiegler-Brooke syndrome

PreTest Information

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

Detail Description

CYLD Gene Spiegler-Brooke Syndrome NGS Genetic DNA Test Cost INR: 20000

DNA Labs India offers a comprehensive genetic test for Spiegler-Brooke syndrome, a rare genetic disorder that affects the skin. This test is based on next-generation sequencing (NGS) technology and focuses on the CYLD gene, which is associated with this syndrome. The cost of the test is INR 20000.

Symptoms of Spiegler-Brooke Syndrome

Spiegler-Brooke syndrome is characterized by the development of multiple benign skin tumors known as cylindromas. These tumors can occur anywhere on the body but are most commonly found on the head and neck. The tumors can be painful and may bleed if they are irritated or injured. In some cases, the tumors can become malignant and spread to other parts of the body.

Diagnosis of Spiegler-Brooke Syndrome

Diagnosis of Spiegler-Brooke syndrome is based on the presence of multiple cylindromas. A biopsy of the tumors may be performed to confirm the diagnosis. Genetic testing can also be used to confirm the diagnosis and identify the specific genetic mutation associated with the condition.

CYLD Gene Mutation

Spiegler-Brooke syndrome is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate cell growth and division. Mutations in the CYLD gene disrupt the normal function of the protein, leading to the development of cylindromas.

NGS Genetic DNA Test

The NGS genetic DNA test offered by DNA Labs India analyzes the entire coding region of the CYLD gene, as well as adjacent non-coding regions. This allows for the detection of a wide range of genetic mutations associated with Spiegler-Brooke syndrome.

Cost of the Test

The cost of the NGS genetic DNA test for Spiegler-Brooke syndrome is INR 20000. This includes the cost of sample collection, DNA extraction, sequencing, and analysis. Results are typically available within 2-3 weeks of sample collection.

Conclusion

The NGS genetic DNA test offered by DNA Labs India provides a comprehensive and accurate diagnosis of Spiegler-Brooke syndrome. Early diagnosis and treatment can help prevent the development of malignant tumors and improve outcomes for patients. The cost of the test is INR 20000, making it an affordable option for individuals seeking a genetic diagnosis.