Short Description

NGS genetic DNA test detecets for variant and mutation detection in DOK7 gene for Myasthenic syndrome, congenital, type 10

PreTest Information

Clinical History of Patient who is going for DOK7 Gene Myasthenic syndrome, congenital, type 10 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DOK7 Gene Myasthenic syndrome, congenital, type 10

Detail Description

DOK7 Gene Myasthenic Syndrome, Congenital, Type 10: NGS Genetic DNA Test Cost INR 20,000 Symptoms Diagnosis

Myasthenic syndrome, congenital, type 10 is a rare genetic disorder that affects the neuromuscular junction. It is caused by mutations in the DOK7 gene and is characterized by muscle weakness and fatigue. The disorder is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Symptoms of DOK7 Gene Myasthenic Syndrome, Congenital, Type 10

The symptoms of DOK7 Gene Myasthenic Syndrome, Congenital, Type 10 may vary from person to person and can range from mild to severe. Some of the common symptoms of the disorder include:

• Muscle weakness
• Fatigue
• Difficulty breathing
• Droopy eyelids
• Difficulty swallowing
• Slurred speech
• Delayed motor development

Diagnosis of DOK7 Gene Myasthenic Syndrome, Congenital, Type 10

Diagnosis of DOK7 Gene Myasthenic Syndrome, Congenital, Type 10 is based on clinical evaluation, family history, and genetic testing. A muscle biopsy may also be performed to confirm the diagnosis.

NGS Genetic DNA Test for DOK7 Gene Myasthenic Syndrome, Congenital, Type 10

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool for identifying mutations in the DOK7 gene. This test can help diagnose DOK7 Gene Myasthenic Syndrome, Congenital, Type 10 and determine the genetic cause of the disorder.

Cost of NGS Genetic DNA Test for DOK7 Gene Myasthenic Syndrome, Congenital, Type 10

The cost of NGS Genetic DNA Test for DOK7 Gene Myasthenic Syndrome, Congenital, Type 10 in India is around INR 20,000.

Conclusion

DOK7 Gene Myasthenic Syndrome, Congenital, Type 10 is a rare genetic disorder that affects the neuromuscular junction. It is caused by mutations in the DOK7 gene and is characterized by muscle weakness and fatigue. The disorder is inherited in an autosomal recessive pattern. Next-generation sequencing (NGS) genetic DNA testing is a powerful tool for identifying mutations in the DOK7 gene. The cost of NGS Genetic DNA Test for DOK7 Gene Myasthenic Syndrome, Congenital, Type 10 in India is around INR 20,000. If you or your loved one is experiencing symptoms of the disorder, it is important to consult a genetic counselor or healthcare provider for proper diagnosis and treatment.