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RYR1 Gene Central Core Disease Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

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The RYR1 Gene Central Core Disease Genetic Test is a specialized diagnostic procedure designed to identify mutations in the RYR1 gene, which are associated with Central Core Disease (CCD). CCD is a rare genetic condition characterized by muscle weakness, skeletal abnormalities, and an increased risk of malignant hyperthermia, a severe reaction to certain anesthesia drugs. This test involves analyzing the patient’s DNA to detect any abnormalities in the RYR1 gene that could indicate the presence of CCD.

Performed at DNA Labs UAE, a leading facility in genetic diagnostics, the test ensures high accuracy and reliability in results, thanks to their state-of-the-art technology and expert team. The cost of the test is set at 4400 AED, reflecting the comprehensive analysis and detailed reporting provided. By identifying the genetic basis of CCD, this test enables targeted management strategies, personalized care, and informed family planning decisions for affected individuals and their families.

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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.

SKU: TEST-1134 Category:

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