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

Understanding NF1 Gene and Neurofibromatosis Type 1 - A Comprehensive Guide

Neurofibromatosis type 1 (NF1) is a genetic disorder that affects the nervous system and causes tumors to grow on nerve tissue. The disorder 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 lead to an overgrowth of cells and the formation of tumors.

Symptoms of NF1

The symptoms of NF1 can vary widely from person to person. Some people may have only a few symptoms, while others may have many. The most common symptoms include:

• Café-au-lait spots (light brown spots on the skin)
• Small bumps on or under the skin (neurofibromas)
• Freckling in the armpit or groin area
• Larger tumors on or under the skin
• Bone deformities
• Learning disabilities
• Vision problems
• Hearing loss
• High blood pressure

It's important to note that not everyone with NF1 will experience all of these symptoms. Some people may have mild symptoms, while others may have more severe symptoms.

Diagnosis of NF1

Diagnosing NF1 typically involves a physical exam, a review of medical history, and genetic testing. The physical exam may include a check for café-au-lait spots, neurofibromas, and other symptoms of the disorder. A review of medical history may also be helpful in making a diagnosis.

Genetic testing is the most accurate way to diagnose NF1. This may involve a blood test or a saliva test to look for mutations in the NF1 gene. If a mutation is found, the person is diagnosed with NF1.

NGS Genetic DNA Test for NF1 Gene

NGS (Next-generation sequencing) genetic testing is a method used to analyze DNA and identify mutations in genes. This type of testing is often used to diagnose genetic disorders, including NF1.

The NGS genetic DNA test for the NF1 gene can help identify mutations in the gene that cause NF1. This test can be done on a blood sample or a saliva sample. The cost of the NGS genetic DNA test for NF1 gene in India is around INR 20,000.

Conclusion

Neurofibromatosis type 1 is a genetic disorder that affects the nervous system and causes tumors to grow on nerve tissue. It's caused by mutations in the NF1 gene, which can be diagnosed through NGS genetic DNA testing. If you or someone you know is experiencing symptoms of NF1, it's important to seek medical attention and get a proper diagnosis. The earlier the diagnosis, the better the chances of managing the symptoms and preventing complications.

At DNA Labs India, we offer NGS genetic DNA testing for NF1 and other genetic disorders. Contact us today to learn more.