Short Description

NGS genetic DNA test detecets for variant and mutation detection in NF1 gene for Neurofibromatosis type 1

PreTest Information

Clinical History of Patient who is going for NF1 Gene Neurofibromatosis type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NF1 Gene Neurofibromatosis type 1 NGS Genetic DNA Test gene NF1

Detail Description

NF1 Gene Neurofibromatosis Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Neurofibromatosis type 1 (NF1) is a genetic disorder that affects the nervous system, skin, and other organs of the body. It is caused by a mutation in the NF1 gene, which provides instructions for making a protein called neurofibromin. This protein helps regulate cell growth and division. When the NF1 gene is mutated, it can cause tumors to grow along nerves in the body, leading to a range of symptoms.

Symptoms of NF1

The symptoms of NF1 can vary widely from person to person, even within families. Some people may have only mild symptoms, while others may experience more severe symptoms. Some of the common symptoms of NF1 include:

• Café-au-lait spots (flat, light brown spots on the skin)
• Soft bumps or nodules on or under the skin (neurofibromas)
• Bone deformities
• Learning disabilities
• Vision problems
• Hearing loss
• High blood pressure

Diagnosis of NF1

The diagnosis of NF1 is usually made based on a physical exam and medical history. A genetic test can also confirm the diagnosis by detecting mutations in the NF1 gene. Genetic testing can be done using a variety of methods, including Next Generation Sequencing (NGS). NGS is a high-throughput, cost-effective method that can sequence large amounts of DNA in a short amount of time.

NGS Genetic DNA Test for NF1

DNA Labs India offers an NGS genetic DNA test for NF1 that costs INR 20,000. This test uses NGS technology to sequence the NF1 gene and detect mutations that may be causing NF1. The test is a non-invasive, painless procedure that requires only a small blood sample. The results of the test can help diagnose NF1 and provide information about the risk of passing the condition on to children.

Conclusion

Neurofibromatosis type 1 is a complex genetic disorder that can cause a range of symptoms. Genetic testing, such as the NGS genetic DNA test offered by DNA Labs India, can help diagnose NF1 and provide valuable information about the condition. If you or someone you know is experiencing symptoms of NF1, speak with a healthcare provider about genetic testing options.