Hyperlysinemia Type 1 is a rare genetic disorder that affects the way the body metabolizes the amino acid lysine. It is caused by mutations in the AASS gene, which leads to an accumulation of lysine in the blood. This condition can have various symptoms and is often diagnosed through genetic testing. DNA Labs UAE offers a comprehensive genetic test for Hyperlysinemia Type 1, aimed at identifying mutations in the AASS gene. This test is pivotal for individuals who exhibit symptoms of the disorder or have a family history of the condition.
Symptoms of Hyperlysinemia Type 1
The symptoms of Hyperlysinemia Type 1 can vary widely among individuals. Some may exhibit mild symptoms, while others may experience more severe complications. It is crucial to recognize these symptoms early to manage the condition effectively. The most common symptoms include:
- Developmental delay or regression
- Muscle weakness or hypotonia
- Seizures or convulsions
- Behavioral abnormalities
- Learning difficulties
- Intellectual disability
- Frequent episodes of diarrhea
- Facial dysmorphism in some cases
It’s important to note that the presence of these symptoms does not confirm Hyperlysinemia Type 1. Genetic testing is essential to accurately diagnose the condition.
The AASS Gene Hyperlysinemia Type 1 Genetic Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test designed to identify mutations in the AASS gene, which are indicative of Hyperlysinemia Type 1. This test is conducted through a simple blood sample, making it a non-invasive procedure. The process involves extracting DNA from the blood sample and analyzing it for specific mutations associated with the disorder.
The cost of the AASS Gene Hyperlysinemia Type 1 Genetic Test is 4400 AED. This price includes the cost of the sample collection, genetic analysis, and a comprehensive report detailing the findings. The report not only indicates the presence of any mutations in the AASS gene but also provides valuable information on the implications of these mutations and recommendations for management and treatment.
For individuals who exhibit symptoms of Hyperlysinemia Type 1 or have a family history of the condition, this test can be a critical step in obtaining a definitive diagnosis. It can also provide peace of mind for those who are found not to carry the genetic mutations associated with the disorder.
Why Choose DNA Labs UAE for Genetic Testing?
DNA Labs UAE is a leading provider of genetic testing services in the United Arab Emirates. With state-of-the-art facilities and a team of expert geneticists, the lab offers accurate and reliable testing for a wide range of genetic conditions, including Hyperlysinemia Type 1. The lab is committed to providing confidential and compassionate care, ensuring that individuals and families receive the support they need throughout the testing process.
For more information about the AASS Gene Hyperlysinemia Type 1 Genetic Test and to schedule an appointment, please visit https://dnalabsuae.com/tests/aass-gene-hyperlysinemia-type-1-genetic-test/.
Conclusion
Hyperlysinemia Type 1 is a rare but manageable condition with the right diagnosis and treatment. Recognizing the symptoms early and undergoing genetic testing can make a significant difference in the management of the disorder. DNA Labs UAE provides a comprehensive and reliable genetic test for Hyperlysinemia Type 1, helping individuals and families gain the insights they need into this condition. With a commitment to accuracy, privacy, and support, DNA Labs UAE is a trusted partner in genetic testing services.
