RYR1 Gene Central Core Disease Genetic Test
At DNA Labs UAE, we offer the RYR1 Gene Central Core Disease Genetic Test at a cost of AED 4400.0. This test is used to diagnose central core disease, a muscle disorder associated with mutations in the RYR1 gene.
Test Components
- Price: AED 4400.0
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
Pre Test Information
Prior to undergoing the RYR1 Gene Central Core Disease Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by RYR1 Gene Central Core Disease.
Test Details
The RYR1 gene is responsible for central core disease, a muscle disorder characterized by muscle weakness and stiffness in the hips, legs, and shoulders. Mutations in the RYR1 gene affect the regulation of calcium release in muscle cells.
NGS (next-generation sequencing) genetic testing is used to identify mutations in the RYR1 gene. This advanced testing method allows for the simultaneous analysis of multiple genes, enabling quicker and more accurate diagnosis of central core disease and other genetic disorders.
During NGS genetic testing, the patient’s DNA is sequenced and compared to a reference genome to identify any variations or mutations. This information is then used to determine the presence of central core disease or other genetic disorders.
Overall, the RYR1 Gene Central Core Disease Genetic Test using NGS technology provides valuable information for patients and their families. It allows for earlier diagnosis and potentially more effective treatment options.
| Test Name | RYR1 Gene Central core disease 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 RYR1 Gene Central core disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RYR1 Gene Central core disease |
| Test Details |
The RYR1 gene is associated with a muscle disorder called central core disease. This disease is characterized by muscle weakness and stiffness, especially in the hips, legs, and shoulders. It is caused by mutations in the RYR1 gene, which encodes a protein involved in the regulation of calcium release in muscle cells. NGS (next-generation sequencing) genetic testing can be used to identify mutations in the RYR1 gene. This type of testing allows for the simultaneous analysis of multiple genes, which can help to diagnose central core disease and other genetic disorders more quickly and accurately. NGS genetic testing involves sequencing the DNA of the patient and comparing it to a reference genome to identify any variations or mutations. This information can then be used to determine the presence of central core disease or other genetic disorders. Overall, NGS genetic testing for the RYR1 gene can provide valuable information for patients and their families, allowing for earlier diagnosis and potentially more effective treatment options. |
