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RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test

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

-21%

The “RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test” is a specialized diagnostic procedure offered at DNA Labs UAE, aimed at identifying mutations in the RYR1 gene, which are known to cause Minicore Myopathy with External Ophthalmoplegia. This condition is a rare genetic disorder characterized by muscle weakness, respiratory issues, and external ophthalmoplegia, which is a condition affecting eye movement. The RYR1 gene plays a crucial role in muscle contraction, and mutations in this gene can lead to the aforementioned symptoms.

The genetic test involves analyzing the patient’s DNA to detect abnormalities in the RYR1 gene, providing valuable information for diagnosis, treatment planning, and genetic counseling. It is particularly useful for families with a history of the disorder, offering insights into the risk of passing the condition to offspring.

The cost of the test is set at 4400 AED, reflecting the specialized nature of the testing and the comprehensive analysis required to accurately identify mutations in the RYR1 gene. Conducted at DNA Labs UAE, the test represents an important resource for individuals and families affected by Minicore Myopathy with External Ophthalmoplegia, facilitating early diagnosis and intervention for this rare condition.

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RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test

At DNA Labs UAE, we offer the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test. This test is designed to diagnose and provide valuable information about Minicore myopathy with external ophthalmoplegia, a genetic disorder characterized by muscle weakness and wasting (myopathy) and weakness or paralysis of the muscles that control eye movement (external ophthalmoplegia).

Test Components

The RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test includes the following components:

  • NGS Technology
  • Neurological Disorders Test Type
  • Genetics Test Department

Price

The cost of the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test is 4400.0 AED.

Sample Condition

The test can be performed using the following sample conditions:

  • Blood
  • Extracted DNA
  • One drop of blood on FTA Card

Report Delivery

The report for the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test will be delivered within 3 to 4 weeks.

Method

The RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test utilizes NGS (Next-Generation Sequencing) technology. This advanced sequencing technology allows for the simultaneous analysis of multiple genes, including the RYR1 gene. It identifies changes or mutations in the DNA sequence of the genes being analyzed.

Test Type

The RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test is specifically designed for diagnosing neurological disorders.

Doctor

The RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test is recommended to be performed by a Neurologist.

Test Department

The RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test is conducted in the Genetics Test Department.

Pre Test Information

Prior to undergoing the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia 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 with RYR1 Gene Minicore Myopathy with External Ophthalmoplegia.

About RYR1 Gene Minicore Myopathy with External Ophthalmoplegia

The RYR1 gene is associated with a condition called Minicore myopathy with external ophthalmoplegia. This genetic disorder is characterized by muscle weakness and wasting (myopathy) and weakness or paralysis of the muscles that control eye movement (external ophthalmoplegia).

NGS genetic testing, such as the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia Genetic Test, allows doctors and geneticists to identify specific mutations or changes in the RYR1 gene. This information aids in the diagnosis of Minicore myopathy with external ophthalmoplegia, predicts disease progression, and guides treatment decisions.

Test Name RYR1 Gene Minicore myopathy with external ophthalmoplegia 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 Minicore myopathy with external ophthalmoplegia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RYR1 Gene Minicore myopathy with external ophthalmoplegia
Test Details

The RYR1 gene is associated with a condition called Minicore myopathy with external ophthalmoplegia. This is a genetic disorder characterized by muscle weakness and wasting (myopathy) and weakness or paralysis of the muscles that control eye movement (external ophthalmoplegia).

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes, including the RYR1 gene. It uses advanced sequencing technology to identify changes or mutations in the DNA sequence of the genes being analyzed.

By performing NGS genetic testing on the RYR1 gene, doctors and geneticists can identify specific mutations or changes in the gene that are associated with Minicore myopathy with external ophthalmoplegia. This information can help in diagnosing the condition, predicting disease progression, and guiding treatment decisions.

SKU: TEST-1672 Category:

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