Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCN4A gene for Paramyotonia congenita of von Eulenburg

PreTest Information

Clinical History of Patient who is going for SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN4A Gene Paramyotonia congenita of von Eulenburg

Detail Description

SCN4A Gene Paramyotonia Congenita of von Eulenburg NGS Genetic DNA Test

Paramyotonia congenita of von Eulenburg is a rare inherited muscle disorder that causes muscle stiffness and weakness. It is caused by a mutation in the SCN4A gene, which provides instructions for making a sodium channel that helps control the flow of charged particles in muscle cells. This disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder.

Symptoms of Paramyotonia Congenita of von Eulenburg

The symptoms of Paramyotonia congenita of von Eulenburg usually appear in childhood or adolescence and may include:

• Muscle stiffness and weakness, especially in the face, neck, and hands
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Worsening of symptoms with exposure to cold temperatures or prolonged exercise
• Relief of symptoms with rest or warmth

Diagnosis of Paramyotonia Congenita of von Eulenburg

Diagnosis of Paramyotonia congenita of von Eulenburg is usually based on the symptoms and a family history of the disorder. A genetic test can confirm the diagnosis by identifying the mutation in the SCN4A gene. Genetic testing may also be recommended for family members of someone with the disorder to determine if they carry the mutation and are at risk of developing the disorder.

NGS Genetic DNA Test for SCN4A Gene Paramyotonia Congenita of von Eulenburg

The NGS Genetic DNA Test for SCN4A Gene Paramyotonia Congenita of von Eulenburg is a genetic test that uses next-generation sequencing (NGS) technology to analyze the SCN4A gene for mutations associated with the disorder. This test can provide a definitive diagnosis of Paramyotonia congenita of von Eulenburg and can also be used for carrier testing in family members of someone with the disorder.

Cost of NGS Genetic DNA Test for SCN4A Gene Paramyotonia Congenita of von Eulenburg

The cost of the NGS Genetic DNA Test for SCN4A Gene Paramyotonia Congenita of von Eulenburg varies depending on the testing facility and location. In India, the cost of this test is typically around INR 20,000.

Conclusion

Paramyotonia congenita of von Eulenburg is a rare inherited muscle disorder that can cause muscle stiffness and weakness. A genetic test can confirm the diagnosis by identifying the mutation in the SCN4A gene. The NGS Genetic DNA Test for SCN4A Gene Paramyotonia Congenita of von Eulenburg is a genetic test that uses next-generation sequencing (NGS) technology to analyze the SCN4A gene for mutations associated with the disorder. This test can provide a definitive diagnosis of Paramyotonia congenita of von Eulenburg and can also be used for carrier testing in family members of someone with the disorder. The cost of this test in India is typically around INR 20,000.

If you or someone you know is experiencing symptoms of Paramyotonia congenita of von Eulenburg, it is important to seek medical attention and genetic testing to confirm the diagnosis. DNA Labs India offers NGS Genetic DNA Testing services for various genetic disorders, including Paramyotonia congenita of von Eulenburg. Contact us today to learn more about our genetic testing services and to schedule an appointment.