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. |