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SLC19A3 Gene Encephalopathy thiamine-responsive Genetic Test

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

-21%

SLC19A3 gene encephalopathy, also known as thiamine metabolism dysfunction syndrome 2 (THMD2), is a rare genetic condition characterized by a range of neurological symptoms. This condition is caused by mutations in the SLC19A3 gene, which plays a crucial role in thiamine (vitamin B1) transport within the body. Thiamine is essential for energy production and normal neuronal function. When its transport is impaired due to mutations in the SLC19A3 gene, it can lead to a spectrum of neurological manifestations including seizures, developmental delay, and in severe cases, encephalopathy.

Recognizing and diagnosing SLC19A3 gene encephalopathy early is critical, as it is a condition that can respond to high doses of thiamine and biotin, potentially improving neurological outcomes. To facilitate this, genetic testing is available and is a key tool in the diagnostic process. The test specifically looks for mutations in the SLC19A3 gene that are known to cause the disorder.

In the UAE, DNA Labs offers a comprehensive genetic test for diagnosing SLC19A3 gene encephalopathy. The test is meticulously designed to identify the genetic mutations associated with this condition, providing essential information for an accurate diagnosis. The cost of the test is 4400 AED, reflecting the specialized nature of the analysis and the significant impact it can have on patient care. Conducted in a state-of-the-art facility, DNA Labs UAE ensures high-quality testing standards, providing patients and healthcare providers with reliable and actionable genetic insights that can guide treatment decisions and improve patient outcomes.

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SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test

Welcome to DNA Labs UAE, where we offer the SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test. This test is designed to diagnose and guide treatment decisions for individuals with SLC19A3 gene encephalopathy, a rare genetic disorder affecting the nervous system.

Test Components

The SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test includes:

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

Price

The cost of the SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test is 4400.0 AED.

Sample Condition

We accept the following sample conditions for this test:

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

Report Delivery

You can expect to receive your test results within 3 to 4 weeks.

Method

The SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test utilizes NGS Technology for accurate and comprehensive analysis.

Doctor

This test is recommended for individuals under the care of a Neurologist.

Test Department

The SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test is conducted in our Genetics Test Department.

Pre Test Information

Prior to undergoing the SLC19A3 Gene Encephalopathy Thiamine-Responsive NGS Genetic DNA 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 SLC19A3 Gene Encephalopathy Thiamine-Responsive.

Test Details

SLC19A3 gene encephalopathy is a rare genetic disorder that affects the nervous system. It is caused by mutations in the SLC19A3 gene, which is responsible for the production of a protein that transports thiamine (vitamin B1) into cells. Thiamine is essential for energy production and proper function of the nervous system.

Individuals with SLC19A3 gene encephalopathy may experience a range of symptoms, including developmental delay, seizures, movement disorders, vision problems, hearing loss, and cognitive impairment. The severity and specific symptoms of the disorder can vary widely.

The SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test utilizes next-generation sequencing (NGS) technology to identify mutations in the SLC19A3 gene. This comprehensive analysis of the gene allows for the detection of both common and rare mutations.

The results of this test can help diagnose SLC19A3 gene encephalopathy and guide treatment decisions. Thiamine supplementation has been shown to improve symptoms in some individuals with this disorder.

In addition, the test results can provide information about the likelihood of passing on the disorder to future generations, which can be helpful for family planning decisions.

For more information or to schedule a test, please contact our DNA Labs UAE.

Test Name SLC19A3 Gene Encephalopathy thiamine-responsive 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 SLC19A3 Gene Encephalopathy thiamine-responsive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC19A3 Gene Encephalopathy thiamine-responsive
Test Details

SLC19A3 gene encephalopathy is a rare genetic disorder that affects the nervous system. It is caused by mutations in the SLC19A3 gene, which provides instructions for making a protein that transports thiamine (vitamin B1) into cells. Thiamine is essential for energy production and proper function of the nervous system.

Individuals with SLC19A3 gene encephalopathy may experience a range of symptoms, including developmental delay, seizures, movement disorders, vision problems, hearing loss, and cognitive impairment. The severity and specific symptoms of the disorder can vary widely.

A genetic test using next-generation sequencing (NGS) can identify mutations in the SLC19A3 gene. This test can help diagnose SLC19A3 gene encephalopathy and guide treatment decisions. Thiamine supplementation has been shown to improve symptoms in some individuals with this disorder.

NGS genetic testing involves sequencing the entire coding region of the SLC19A3 gene, as well as nearby non-coding regions that may affect gene expression. This approach allows for comprehensive analysis of the gene and can identify both common and rare mutations. Results of the test can help determine the likelihood of passing on the disorder to future generations and inform family planning decisions.