Short Description

NGS genetic DNA test detecets for variant and mutation detection in HINT1 gene for Neuromyotonia and axonal neuropathy, autosomal recessive

PreTest Information

Clinical History of Patient who is going for HINT1 Gene Neuromyotonia and axonal neuropathy, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HINT1 Gene Neuromyotonia and axonal neuropathy, autosomal recessive

Detail Description

HINT1 Gene Neuromyotonia and Axonal Neuropathy: Symptoms, Diagnosis, and Autosomal Recessive NGS Genetic DNA Test Cost

Neuromyotonia and axonal neuropathy are two types of neurological disorders that can be caused by mutations in the HINT1 gene. These disorders are usually inherited in an autosomal recessive pattern, meaning that both parents must pass on a mutated copy of the gene for the disorder to develop.

Symptoms

Neuromyotonia is a condition that causes muscle stiffness, cramping, and spasms. These symptoms are usually most noticeable in the arms and legs, but can also affect the face and trunk. In some cases, people with neuromyotonia may also experience muscle twitching, weakness, and atrophy.

Axonal neuropathy, on the other hand, is a condition that affects the nerves that carry signals from the brain and spinal cord to the rest of the body. This can cause a wide range of symptoms, including muscle weakness, numbness, tingling, and pain. In severe cases, axonal neuropathy can lead to paralysis and other complications.

Diagnosis

Diagnosing neuromyotonia and axonal neuropathy can be challenging, as the symptoms can be similar to those of other neurological disorders. However, genetic testing can help to identify mutations in the HINT1 gene that are associated with these conditions.

The most commonly used genetic test for neuromyotonia and axonal neuropathy is an autosomal recessive NGS (next-generation sequencing) genetic DNA test. This test looks for mutations in the HINT1 gene, as well as other genes that may be associated with these conditions.

Cost

The cost of an autosomal recessive NGS genetic DNA test for neuromyotonia and axonal neuropathy can vary depending on the testing facility and the specific test that is performed. In India, the cost of this test is typically around INR 20,000.

Conclusion

Neuromyotonia and axonal neuropathy are two neurological disorders that can be caused by mutations in the HINT1 gene. These conditions can be challenging to diagnose, but genetic testing can help to identify the underlying cause. If you or a loved one is experiencing symptoms of neuromyotonia or axonal neuropathy, it is important to speak with a healthcare professional and consider genetic testing to determine the most appropriate course of treatment.

At DNA Labs India, we offer a range of genetic tests for a variety of conditions, including neuromyotonia and axonal neuropathy. Our team of experts is dedicated to providing accurate and timely results to help our patients make informed decisions about their health. Contact us today to learn more about our 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 HINT1 Gene Neuromyotonia and axonal neuropathy, autosomal recessive NGS Genetic DNA Test