PTCH2 Gene Basal Cell Nevus Syndrome Genetic Test
At DNA Labs UAE, we offer the PTCH2 Gene Basal Cell Nevus Syndrome genetic test. This test helps in diagnosing and understanding the risk of developing Basal Cell Nevus Syndrome (BCNS), also known as Gorlin syndrome. BCNS is a genetic disorder characterized by the development of multiple basal cell carcinomas, jaw cysts, skeletal abnormalities, and palmar or plantar pits.
Test Components and Price
- Test Name: PTCH2 Gene Basal Cell Nevus Syndrome due to germline PTCH2 mutation Genetic Test
- Price: 4400.0 AED
Sample Condition and Report Delivery
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
Method and Test Type
- Method: NGS Technology (Next-generation sequencing)
- Test Type: Cancer
Doctor and Test Department
- Doctor: Oncologist
- Test Department: Genetics
Pre Test Information
Before undergoing the PTCH2 Gene Basal Cell Nevus Syndrome genetic test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by PTCH2 Gene Basal Cell Nevus Syndrome due to germline PTCH2 mutation NGS Genetic DNA Test gene PTCH2.
Test Details
Basal Cell Nevus Syndrome (BCNS), also known as Gorlin syndrome, is a genetic disorder that can be diagnosed through the PTCH2 Gene Basal Cell Nevus Syndrome genetic test. Mutations in the PTCH2 gene can increase the risk of developing basal cell carcinomas and other features of the syndrome. The PTCH2 gene is responsible for producing the patched 2 protein, which plays a crucial role in the Hedgehog signaling pathway involved in cell growth and development.
The PTCH2 Gene Basal Cell Nevus Syndrome genetic test utilizes Next-generation sequencing (NGS) technology to analyze multiple genes, including PTCH2, in a single test. NGS can detect both small genetic changes, such as point mutations, and larger genetic alterations, such as deletions or duplications. If a germline (inherited) PTCH2 mutation is identified through NGS testing, it confirms a diagnosis of BCNS and helps guide management and surveillance strategies for the individual and their family members.
Regular skin examinations and monitoring for other associated features may be recommended to detect and manage any potential complications. It is important to note that genetic testing for BCNS should be performed by a healthcare professional with expertise in genetics, as interpretation of the results and genetic counseling are essential components of the testing process.
| Test Name | PTCH2 Gene Basal cell nevus syndrome due to germline PTCH2 mutation Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Cancer |
| Doctor | Oncologist |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details | Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a genetic disorder characterized by the development of multiple basal cell carcinomas (a type of skin cancer) and other features such as jaw cysts, skeletal abnormalities, and palmar or plantar pits. The PTCH2 gene is one of the genes associated with BCNS. Mutations in the PTCH2 gene can lead to an increased risk of developing basal cell carcinomas and other features of the syndrome. The PTCH2 gene provides instructions for making a protein called patched 2, which is involved in the Hedgehog signaling pathway. This pathway plays a crucial role in the regulation of cell growth and development. To diagnose BCNS, a genetic test can be performed to identify mutations in the PTCH2 gene. Next-generation sequencing (NGS) is a type of genetic testing that allows for the simultaneous analysis of multiple genes, including PTCH2, in a single test. NGS can detect both small genetic changes, such as point mutations, as well as larger genetic alterations, such as deletions or duplications. If a germline (inherited) PTCH2 mutation is identified through NGS testing, it confirms a diagnosis of BCNS and can guide management and surveillance strategies for the individual and their family members. Regular skin examinations and monitoring for other associated features may be recommended to detect and manage any potential complications. It is important to note that genetic testing for BCNS should be performed by a healthcare professional with expertise in genetics, as interpretation of the results and genetic counseling are essential components of the testing process. |
