Short Description

NGS genetic DNA test detecets for variant and mutation detection in PTCH2 gene for Basal cell nevus syndrome due to germline PTCH2 mutation

PreTest Information

Clinical History of Patient who is going for PTCH2 Gene Basal cell nevus syndrome due to germline PTCH2 mutation NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTCH2 Gene Basal cell nevus syndrome due to germline PTCH2 mutation NGS Genetic DNA Test gene PTCH2

Detail Description

PTCH2 Gene Basal Cell Nevus Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Basal cell nevus syndrome (BCNS) is a rare genetic disorder that affects around 1 in 30,000 individuals worldwide. It is also known as Gorlin-Goltz syndrome, after the two doctors who first described the disorder in 1960. BCNS is caused by a mutation in the PTCH1 or PTCH2 genes, which are responsible for suppressing the growth of tumors.

Symptoms of BCNS

BCNS is characterized by the development of multiple basal cell carcinomas (BCCs), a type of skin cancer that arises from the basal cells in the epidermis. BCCs typically appear as small, shiny, dome-shaped bumps on the skin, and they may bleed or develop a crust. In BCNS, BCCs can appear on any part of the body, but they are most commonly found on the face, neck, and upper torso.

Other symptoms of BCNS include:

• Jaw cysts or tumors
• Calcification of the falx cerebri (a thin, crescent-shaped sheet of bone that separates the two sides of the brain)
• Palmar or plantar pits (small depressions or dimples on the palms of the hands or soles of the feet)
• Eye abnormalities, such as cataracts or strabismus (crossed eyes)

Diagnosis of BCNS

BCNS is diagnosed based on a combination of clinical features and genetic testing. A doctor may suspect BCNS if a patient has multiple BCCs or other characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the PTCH1 or PTCH2 gene.

NGS Genetic DNA Test Cost

NGS (next-generation sequencing) is a type of genetic testing that can analyze multiple genes simultaneously. It is a powerful tool for diagnosing genetic disorders like BCNS. The cost of NGS testing for BCNS in India is approximately INR 20,000. However, the cost may vary depending on the specific laboratory and testing method used.

Conclusion

BCNS is a rare genetic disorder that can cause multiple basal cell carcinomas and other characteristic symptoms. Diagnosis of BCNS is based on clinical features and genetic testing. NGS testing is a powerful tool for diagnosing BCNS and the cost of NGS testing in India is approximately INR 20,000.

At DNA Labs India, we offer NGS testing for BCNS and other genetic disorders. Our state-of-the-art laboratory and experienced team of geneticists ensure accurate and reliable testing results. Contact us today to learn more about our genetic testing services.

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 PTCH2 Gene Basal cell nevus syndrome due to germline PTCH2 mutation NGS Genetic DNA Test