SCN4A Gene Myasthenic Syndrome: Symptoms, Diagnosis, and Genetic Test Cost
SCN4A gene myasthenic syndrome is a rare genetic disorder caused by mutations in the SCN4A gene. This gene provides instructions for making a protein called the sodium channel alpha subunit 4 (Nav1.4), which is involved in the transmission of electrical signals in muscle cells. Mutations in the SCN4A gene can disrupt the normal functioning of Nav1.4 channels, leading to impaired muscle contraction and weakness.
This condition is characterized by muscle weakness and fatigue that worsens with exertion, as well as other symptoms such as muscle cramps, stiffness, and myotonia (delayed muscle relaxation).
To diagnose SCN4A gene myasthenic syndrome, a genetic test is required. The SCN4A Gene Myasthenic Syndrome Genetic Test offered by DNA Labs UAE is a comprehensive test that analyzes the SCN4A gene for mutations. The test utilizes Next-Generation Sequencing (NGS) technology, which allows for the simultaneous sequencing of multiple genes, making it an efficient and cost-effective method for genetic testing.
Test Details
- Test Name: SCN4A Gene Myasthenic Syndrome due to mutation in SCN4A Genetic Test
- Components: NGS Technology
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Test Type: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
Pre Test Information
Before undergoing the SCN4A Gene Myasthenic Syndrome Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by SCN4A Gene Myasthenic Syndrome.
Diagnosis and Management
Genetic testing plays a crucial role in accurately diagnosing SCN4A gene myasthenic syndrome. By identifying mutations in the SCN4A gene, healthcare professionals can confirm the diagnosis and provide valuable information for genetic counseling. Although there is currently no cure for SCN4A gene myasthenic syndrome, management options focus on symptom relief and improving the patient’s quality of life.
For individuals interested in undergoing the SCN4A Gene Myasthenic Syndrome Genetic Test, DNA Labs UAE offers the test at a cost of 4400.0 AED. The test can be conducted using a blood sample or extracted DNA, or by collecting one drop of blood on an FTA card. The report delivery time is estimated to be 3 to 4 weeks.
By utilizing NGS technology, DNA Labs UAE ensures accurate and efficient genetic testing for neurological disorders such as SCN4A gene myasthenic syndrome. The test is conducted by experienced neurologists in the genetics department, guaranteeing reliable results.
Genetic testing not only aids in diagnosis but also helps guide treatment decisions and provides valuable information for genetic counseling. By understanding the genetic basis of SCN4A gene myasthenic syndrome, healthcare professionals can develop personalized treatment plans and offer support to affected individuals and their families.
| Test Name | SCN4A Gene Myasthenic syndrome due to mutation in SCN4A Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details | SCN4A gene myasthenic syndrome is a rare genetic disorder caused by mutations in the SCN4A gene. This gene provides instructions for making a protein called the sodium channel alpha subunit 4 (Nav1.4), which is involved in the transmission of electrical signals in muscle cells. Mutations in the SCN4A gene can disrupt the normal functioning of Nav1.4 channels, leading to impaired muscle contraction and weakness. This condition is characterized by muscle weakness and fatigue that worsens with exertion, as well as other symptoms such as muscle cramps, stiffness, and myotonia (delayed muscle relaxation). NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to identify mutations in the SCN4A gene and diagnose SCN4A gene myasthenic syndrome. NGS allows for the simultaneous sequencing of multiple genes, making it an efficient and cost-effective method for genetic testing. During NGS testing, DNA samples from the patient are sequenced, and the resulting data is analyzed to identify any genetic variants or mutations in the SCN4A gene. These mutations can then be correlated with the symptoms and clinical presentation to confirm a diagnosis of SCN4A gene myasthenic syndrome. Genetic testing is important for accurate diagnosis, as it can help guide treatment decisions and provide valuable information for genetic counseling. While there is currently no cure for SCN4A gene myasthenic syndrome, management options focus on symptom relief and improving quality of life. |
