Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCN4A gene for Myasthenic syndrome due to mutation in SCN4A

PreTest Information

Clinical History of Patient who is going for SCN4A Gene Myasthenic syndrome due to mutation in SCN4A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN4A Gene Myasthenic syndrome due to mutation in SCN4A

Detail Description

SCN4A Gene Myasthenic Syndrome

SCN4A Gene Myasthenic Syndrome is a rare genetic disorder that affects the functioning of the SCN4A gene. This gene is responsible for the production of a protein that plays a crucial role in the transmission of signals between nerve cells and muscle cells. When there is a mutation in this gene, it can lead to a range of symptoms including muscle weakness, fatigue, and difficulty breathing.

Symptoms of SCN4A Gene Myasthenic Syndrome

The symptoms of SCN4A Gene Myasthenic Syndrome can vary from person to person, and may include:

• Muscle weakness
• Fatigue
• Difficulty breathing
• Difficulty swallowing
• Speech difficulties
• Facial weakness
• Double vision
• Loss of bladder control

Diagnosis of SCN4A Gene Myasthenic Syndrome

The diagnosis of SCN4A Gene Myasthenic Syndrome typically involves a combination of physical examination, medical history, and genetic testing. A doctor may also order additional tests such as nerve conduction studies and electromyography (EMG) to evaluate muscle function and rule out other conditions that may cause similar symptoms.

NGS Genetic DNA Test for SCN4A Gene Myasthenic Syndrome

DNA Labs India offers Next-Generation Sequencing (NGS) Genetic DNA testing for SCN4A Gene Myasthenic Syndrome. This test uses advanced technology to analyze the entire SCN4A gene and identify any mutations that may be present. The cost of this test is INR 20,000.

Conclusion

SCN4A Gene Myasthenic Syndrome is a rare genetic disorder that can cause a range of symptoms including muscle weakness, fatigue, and difficulty breathing. If you or a loved one are experiencing these symptoms, it is important to seek medical attention and consider genetic testing to determine the underlying cause. DNA Labs India offers advanced NGS Genetic DNA testing for SCN4A Gene Myasthenic Syndrome at an affordable cost.

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 SCN4A Gene Myasthenic syndrome due to mutation in SCN4A NGS Genetic DNA Test