Short Description

NGS genetic DNA test detecets for variant and mutation detection in SUFU gene for Basal cell nevus syndrome

PreTest Information

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

Detail Description

SUFU Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test Cost INR 20000

Basal Cell Nevus Syndrome (BCNS), also known as Gorlin Syndrome, is a rare genetic disorder that affects about 1 in 30,000 people worldwide. It is caused by mutations in the SUFU gene, which is responsible for regulating the Hedgehog signaling pathway. This pathway plays an important role in the development of many tissues and organs in the body.

People with BCNS are at a higher risk of developing multiple basal cell carcinomas (BCCs), a type of skin cancer that arises from the basal cells in the skin's outermost layer. They may also develop other types of tumors, including medulloblastomas (brain tumors), fibromas (benign tumors of connective tissue), and ovarian fibromas (tumors of the ovary).

Symptoms of SUFU Gene Basal Cell Nevus Syndrome

• Multiple basal cell carcinomas (BCCs)
• Odontogenic keratocysts (OKCs) - cysts that form in the jaw
• Pits in the palms of the hands and soles of the feet
• Calcification of the falx cerebri - a calcified ridge in the brain
• Palmar and plantar pits - small depressions in the skin on the palms of the hands and soles of the feet

Diagnosis of SUFU Gene Basal Cell Nevus Syndrome

BCNS is typically diagnosed based on a person's clinical history and physical examination. Genetic testing can confirm the diagnosis and identify the specific mutation in the SUFU gene. This can be done through Next-Generation Sequencing (NGS), a high-throughput DNA sequencing technology that allows for the simultaneous analysis of many genes.

NGS Genetic DNA Test Cost INR 20000

DNA Labs India offers NGS Genetic DNA Test for SUFU Gene Basal Cell Nevus Syndrome at a cost of INR 20000. This test can detect mutations in the SUFU gene with high accuracy and specificity. It can help individuals and families affected by BCNS make informed decisions about their health and future.

Conclusion

SUFU Gene Basal Cell Nevus Syndrome is a rare genetic disorder that can have serious health consequences. Early diagnosis and genetic testing can help individuals and families affected by BCNS to manage their condition and reduce their risk of developing complications. DNA Labs India offers NGS Genetic DNA Test for SUFU Gene Basal Cell Nevus Syndrome at an affordable cost of INR 20000.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SUFU Gene Basal cell nevus syndrome NGS Genetic DNA Test