Understanding the symptoms of PMM2 Gene Glycosylation Disorder Type 1A is crucial for early diagnosis and management of this condition. At DNA Labs UAE, we are committed to providing comprehensive genetic testing services, including the PMM2 Gene Glycosylation Disorder Type 1A Genetic Test, to help individuals and families get the vital information they need for their health and well-being.
Symptoms of PMM2 Gene Glycosylation Disorder Type 1A
PMM2-CDG (Congenital Disorder of Glycosylation Type 1A) is a rare genetic condition that affects multiple systems of the body. This disorder is caused by mutations in the PMM2 gene, leading to improper glycosylation of proteins necessary for various bodily functions. Symptoms of PMM2-CDG can vary widely among affected individuals but generally include:
- Developmental delay and intellectual disability
- Low muscle tone (hypotonia)
- Failure to thrive in infancy
- Problems with balance and coordination (ataxia)
- Seizures
- Stroke-like episodes
- Eye movement abnormalities
- Liver dysfunction
- Coagulation abnormalities leading to an increased risk of bleeding
- Heart defects
These symptoms can range from mild to severe and may evolve as an individual ages. Early diagnosis and intervention are key to managing the symptoms of PMM2-CDG and improving the quality of life for those affected.
Understanding the PMM2 Gene Glycosylation Disorder Type 1A Genetic Test
The PMM2 Gene Glycosylation Disorder Type 1A Genetic Test is a specialized diagnostic tool used to detect mutations in the PMM2 gene, which are indicative of PMM2-CDG. This test is crucial for confirming the diagnosis, especially in individuals who present with the aforementioned symptoms. At DNA Labs UAE, we employ advanced genetic testing techniques to ensure accurate and reliable results.
Test Cost
The cost of the PMM2 Gene Glycosylation Disorder Type 1A Genetic Test at DNA Labs UAE is 4400 AED. This includes the cost of the test itself, as well as a comprehensive consultation to discuss the results and implications for the individual and their family.
Why Choose DNA Labs UAE?
At DNA Labs UAE, we are dedicated to providing high-quality genetic testing services. Our team of experts uses the latest technology and follows strict protocols to ensure the accuracy and confidentiality of your test results. We understand the importance of timely and accurate diagnosis, which is why we strive to deliver results promptly. Furthermore, our comprehensive consultation service ensures that you have the necessary support and information to understand your results and make informed health decisions.
If you or a loved one is experiencing symptoms that may be indicative of PMM2-CDG, or if you have a family history of this condition, we encourage you to consider the PMM2 Gene Glycosylation Disorder Type 1A Genetic Test. Contact us today to learn more about this test and how it can benefit you.
