Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYLD gene for Trichoepithelioma, multiple familial, type 1

PreTest Information

Clinical History of Patient who is going for CYLD Gene Trichoepithelioma, multiple familial, type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYLD Gene Trichoepithelioma, multiple familial, type 1 NGS Genetic DNA Test gene CYLD

Detail Description

CYLD Gene Trichoepithelioma - DNA Labs India

Trichoepithelioma is a rare genetic condition that affects the hair follicles. CYLD Gene Trichoepithelioma, multiple familial, type 1 is a specific type of trichoepithelioma that is inherited in an autosomal dominant pattern. This means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition.

Symptoms of CYLD Gene Trichoepithelioma, multiple familial, type 1 include the development of small, flesh-colored or pink bumps on the face, ears, neck, and upper body. These bumps may be tender or itchy and can bleed easily if scratched or rubbed. They can also develop into larger, raised nodules over time.

Diagnosis of CYLD Gene Trichoepithelioma, multiple familial, type 1 is typically made through a skin biopsy, in which a small sample of tissue is taken from one of the bumps and examined under a microscope. Genetic testing may also be performed to confirm the presence of the mutated CYLD gene.

DNA Labs India offers NGS Genetic DNA testing for CYLD Gene Trichoepithelioma, multiple familial, type 1 at a cost of INR 20000. This test can detect mutations in the CYLD gene and provide a definitive diagnosis for individuals with suspected or confirmed trichoepithelioma. Early detection and treatment can help prevent the development of more serious complications.

Contact DNA Labs India today to learn more about CYLD Gene Trichoepithelioma, multiple familial, type 1 NGS Genetic DNA Test cost, symptoms, diagnosis and to schedule your testing appointment.

Multiple familial trichoepithelioma type 1 (MFT1) is a rare genetic disorder characterized by the development of multiple benign skin tumors called trichoepitheliomas. These tumors arise from hair follicle cells and typically appear on the face and upper body. MFT1 is caused by mutations in the CYLD gene.

The CYLD gene, as previously mentioned, encodes a tumor suppressor protein that helps regulate cell growth and prevent the formation of tumors. Mutations in the CYLD gene can lead to a loss of its normal function, allowing tumors like trichoepitheliomas to develop.

Next-Generation Sequencing (NGS) is a genetic testing technique that can simultaneously analyze multiple genes for mutations or variations associated with specific genetic disorders. In the context of MFT1, NGS can identify mutations in the CYLD gene that contribute to the development of trichoepitheliomas.

If you suspect that you or someone you know might have multiple familial trichoepithelioma type 1 or any other genetic disorder, it's important to consult with a medical geneticist, dermatologist, or healthcare professional with expertise in genetics. Genetic testing, including NGS, can be valuable in confirming the diagnosis and providing information for appropriate management and surveillance.

As with any medical condition, accurate information is key. Always seek information from reliable medical sources and consult with qualified healthcare professionals for proper diagnosis and care.