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YARS1 Gene DI-CMTC Genetic Test

4,400 د.إ

-21%

The YARS1 Gene DI-CMTC Genetic Test is a specialized diagnostic assessment conducted to identify mutations in the YARS1 gene, which are associated with Dominant Intermediate Charcot-Marie-Tooth disease (DI-CMTC). Charcot-Marie-Tooth disease is a group of inherited disorders that primarily affect the peripheral nerves, leading to muscle weakness and sensory problems, predominantly in the feet and legs. The YARS1 gene plays a crucial role in the proper functioning of neurons, and mutations in this gene can disrupt nerve function, contributing to the symptoms of DI-CMTC.

This genetic test involves analyzing the patient’s DNA to detect any alterations in the YARS1 gene that may indicate the presence of DI-CMTC. It is a vital tool for clinicians in diagnosing the condition, allowing for a more targeted approach to treatment and management of symptoms. Additionally, understanding the genetic basis of the disease can provide important information for family planning and genetic counseling for affected families.

The test is offered at DNA Labs UAE, a leading facility in genetic testing and analysis. The cost of the YARS1 Gene DI-CMTC Genetic Test is 4400 AED. This price reflects the sophisticated technology and expertise required to accurately identify mutations in the YARS1 gene. For patients and families affected by Charcot-Marie-Tooth disease, this test represents a critical step in understanding their condition and navigating the challenges it presents.

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YARS1 Gene DI-CMTC Genetic Test – DNA Labs UAE

Are you or a loved one experiencing symptoms of Charcot-Marie-Tooth disease (CMT)? DNA Labs UAE offers the YARS1 Gene DI-CMTC Genetic Test, a diagnostic test that can help identify the specific mutations in the YARS1 gene that cause this rare form of CMT. In this blog, we will provide detailed information about the test, including its components, cost, symptoms, diagnosis, and more.

Test Name: YARS1 Gene DI-CMTC Genetic Test

Components:

  • Price: 4400.0 AED
  • 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 YARS1 Gene DI-CMTC NGS Genetic DNA 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 who have been affected by YARS1 Gene DI-CMTC.

Test Details

The YARS1 gene DI-CMTC NGS genetic test is a diagnostic test specifically designed to identify mutations in the YARS1 gene that lead to the development of distal intermediate Charcot-Marie-Tooth disease (DI-CMTC). CMT is a group of inherited disorders that affect the peripheral nerves responsible for transmitting signals between the brain and the rest of the body.

DI-CMTC is a subtype of CMT that primarily affects the hands and feet, resulting in weakness, muscle wasting, and sensory loss. The YARS1 gene provides instructions for producing an enzyme called tyrosyl-tRNA synthetase, which is crucial for protein production in the body. Mutations in the YARS1 gene can disrupt the normal function of this enzyme, leading to the development of DI-CMTC.

The YARS1 gene DI-CMTC NGS genetic test utilizes next-generation sequencing (NGS) technology to analyze the DNA sequence of the YARS1 gene and identify any mutations that may be causing DI-CMTC. This test is typically performed on a blood or saliva sample and can be ordered by a healthcare provider who suspects that a patient may have DI-CMTC.

The results of the YARS1 gene DI-CMTC NGS genetic test can help confirm a diagnosis of DI-CMTC and guide treatment decisions. While there is currently no cure for DI-CMTC, various treatments such as physical therapy, occupational therapy, and assistive devices can help manage symptoms and improve the patient’s quality of life.

If you or someone you know is experiencing symptoms of CMT, it is important to consult with a healthcare professional, such as a neurologist, who can assess the need for the YARS1 gene DI-CMTC NGS genetic test. Early diagnosis and appropriate management can make a significant difference in the patient’s overall well-being.

For more information or to schedule an appointment, contact DNA Labs UAE today.

Test Name YARS1 Gene DI-CMTC 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 YARS1 Gene DI-CMTC NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with YARS1 Gene DI-CMTC
Test Details

YARS1 gene DI-CMTC NGS genetic test is a diagnostic test used to identify mutations in the YARS1 gene that cause a rare form of Charcot-Marie-Tooth disease (CMT) called distal intermediate CMT (DI-CMTC). CMT is a group of inherited disorders that affect the peripheral nerves, which are responsible for transmitting signals between the brain and the rest of the body. DI-CMTC is a subtype of CMT that primarily affects the hands and feet, causing weakness, muscle wasting, and sensory loss.

The YARS1 gene provides instructions for making an enzyme called tyrosyl-tRNA synthetase, which is essential for the production of proteins in the body. Mutations in the YARS1 gene can disrupt the normal function of the enzyme, leading to the development of DI-CMTC.

The YARS1 gene DI-CMTC NGS genetic test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the YARS1 gene and identify any mutations that may be causing DI-CMTC. The test is typically performed on a blood or saliva sample and can be ordered by a healthcare provider who suspects that a patient may have DI-CMTC.

The results of the YARS1 gene DI-CMTC NGS genetic test can help confirm a diagnosis of DI-CMTC and inform treatment decisions. There is currently no cure for DI-CMTC, but treatments such as physical therapy, occupational therapy, and assistive devices can help manage symptoms and improve quality of life.