SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 Genetic Test
At DNA Labs UAE, we offer the SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 Genetic Test. This test is designed to detect mutations in the SYNE1 gene, which is associated with Emery-Dreifuss muscular dystrophy type 4.
Test Components and Price
The cost of the SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 Genetic Test is AED 4400.0. The test requires a blood sample or extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
Once the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes NGS technology, which stands for Next-Generation Sequencing. This advanced sequencing method allows for the analysis of multiple genes simultaneously.
Test Type and Doctor
The SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 Genetic Test falls under the category of Neurological Disorders. It is recommended to consult with a Neurologist for this specific test.
Test Department and Pre Test Information
The test is conducted in our Genetics department. Before undergoing the SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected by the disorder.
About Emery-Dreifuss Muscular Dystrophy Type 4
Emery-Dreifuss muscular dystrophy type 4 is a rare inherited disorder that affects muscle function and movement. It is caused by mutations in the SYNE1 gene, which provides instructions for making a protein called nesprin-1. Nesprin-1 is responsible for maintaining the structure and function of muscle cells.
Benefits of Genetic Testing
Genetic testing using NGS technology can help confirm the diagnosis of Emery-Dreifuss muscular dystrophy type 4 and provide information about the specific mutation involved. This information is crucial for guiding treatment and management of the disorder.
Individual Circumstances and Medical History
It is important to note that genetic testing may not be necessary or appropriate for everyone with Emery-Dreifuss muscular dystrophy type 4. A healthcare provider, such as a Neurologist, can help determine if genetic testing is recommended based on the individual’s circumstances and medical history.
Test Name | SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 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 SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 |
Test Details |
The SYNE1 gene is associated with Emery-Dreifuss muscular dystrophy type 4, which is a rare inherited disorder that affects muscle function and movement. This disorder is caused by mutations in the SYNE1 gene, which provides instructions for making a protein called nesprin-1. Nesprin-1 is involved in maintaining the structure and function of muscle cells. NGS genetic testing is a type of genetic test that uses next-generation sequencing technology to analyze multiple genes simultaneously. This type of testing can detect mutations in the SYNE1 gene and other genes associated with muscular dystrophy. If a person is suspected of having Emery-Dreifuss muscular dystrophy type 4, genetic testing can help confirm the diagnosis and provide information about the specific mutation involved. This information can be used to guide treatment and management of the disorder. It is important to note that genetic testing is not always necessary or appropriate for everyone with Emery-Dreifuss muscular dystrophy type 4. A healthcare provider can help determine if genetic testing is recommended based on a person’s individual circumstances and medical history. |