Short Description

NGS genetic DNA test detecets for variant and mutation detection in NEFH gene for Amyotrophic lateral sclerosis, susceptibility to

PreTest Information

Clinical History of Patient who is going for NEFH Gene Amyotrophic lateral sclerosis, susceptibility to NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NEFH Gene Amyotrophic lateral sclerosis, susceptibility to

Detail Description

NEFH Gene and Amyotrophic Lateral Sclerosis: Understanding Susceptibility through NGS Genetic DNA Test

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease, is a neurodegenerative disorder that affects the nerve cells responsible for controlling voluntary muscles. ALS is a progressive disease that eventually leads to muscle weakness, paralysis, and respiratory failure. The exact cause of ALS is still unknown, but genetic factors are thought to play a role in the development of the disease. One such gene that has been implicated in ALS susceptibility is the NEFH gene.

Understanding the NEFH Gene

The NEFH gene encodes the heavy neurofilament protein, which is a component of the cytoskeleton in neurons. The cytoskeleton provides structural support to the cell and is involved in intracellular transport. Mutations in the NEFH gene can lead to the accumulation of neurofilament aggregates, which have been observed in the motor neurons of ALS patients. These aggregates are thought to contribute to the degeneration of motor neurons and the development of ALS.

NGS Genetic DNA Test for NEFH Gene Mutations

Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations associated with ALS susceptibility. NGS allows for the simultaneous analysis of multiple genes, including the NEFH gene, in a single test. This approach provides a comprehensive view of an individual’s genetic makeup and can help identify mutations that may increase their risk of developing ALS.

Symptoms and Diagnosis of ALS

The symptoms of ALS typically begin with muscle weakness, twitching, and cramping. As the disease progresses, the weakness spreads to other parts of the body, eventually leading to paralysis. In some cases, respiratory muscles may also be affected, which can lead to difficulty breathing. The diagnosis of ALS is typically made through a combination of clinical examination, electromyography (EMG), and nerve conduction studies. Genetic testing may also be recommended in some cases to identify mutations associated with ALS susceptibility.

NGS Genetic DNA Test Cost and Availability

The cost of an NGS genetic DNA test for ALS susceptibility varies depending on the provider and the specific genes analyzed. In India, the cost of an NGS genetic DNA test for ALS susceptibility is typically around INR 20,000. DNA Labs India is a leading provider of genetic testing services in India and offers NGS genetic DNA testing for ALS susceptibility. The test is non-invasive and involves collecting a small sample of saliva or blood. Results are typically available within a few weeks.

Conclusion

NGS genetic DNA testing can provide valuable information about an individual’s genetic makeup and their risk of developing ALS. The NEFH gene is one of several genes that have been implicated in ALS susceptibility, and testing for mutations in this gene can help identify individuals who may be at increased risk of developing the disease. If you are concerned about your risk of developing ALS, talk to your doctor about the possibility of genetic testing.