Short Description

NGS genetic DNA test detecets for variant and mutation detection in MUSK gene for Myasthenic syndrome associated with acetylcholine receptor deficiency

PreTest Information

Clinical History of Patient who is going for MUSK Gene Myasthenic syndrome associated with acetylcholine receptor deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MUSK Gene Myasthenic syndrome associated with acetylcholine receptor deficiency

Detail Description

MUSK Gene Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency (MUSK) is a rare genetic disorder that affects the neuromuscular junction. This disorder is caused by mutations in the MUSK gene, which is responsible for producing a protein that plays a critical role in the development and maintenance of the neuromuscular junction.

Individuals with MUSK gene myasthenic syndrome experience muscle weakness that can affect various parts of the body. Symptoms can include difficulty swallowing, drooping eyelids, double vision, difficulty breathing, and weakness in the arms and legs. These symptoms can vary in severity and can worsen over time.

Diagnosis of MUSK gene myasthenic syndrome can be challenging as symptoms can mimic other neuromuscular disorders. However, genetic testing can provide a definitive diagnosis. Next-generation sequencing (NGS) genetic DNA testing is an advanced diagnostic tool that can detect mutations in the MUSK gene. This test can accurately diagnose MUSK gene myasthenic syndrome and help healthcare providers develop an appropriate treatment plan.

The cost of NGS genetic DNA testing for MUSK gene myasthenic syndrome in India is approximately INR 20,000. This cost may vary depending on the testing facility and location.

If you or a loved one is experiencing symptoms of MUSK gene myasthenic syndrome, it is essential to seek medical attention promptly. Early diagnosis and treatment can help manage symptoms and improve overall quality of life.

At DNA Labs India, we offer advanced NGS genetic DNA testing for MUSK gene myasthenic syndrome and other genetic disorders. Our state-of-the-art facilities and experienced healthcare professionals ensure accurate and timely diagnosis. Contact us today to schedule a consultation and learn more about our genetic testing 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 MUSK Gene Myasthenic syndrome associated with acetylcholine receptor deficiency NGS Genetic DNA Test