Mucopolysaccharidosis Type IIIB, also known as Sanfilippo Syndrome Type B, is a rare genetic disorder that affects the body’s ability to break down certain types of sugar molecules called glycosaminoglycans (previously known as mucopolysaccharides). This condition is caused by a mutation in the NAGLU gene, which leads to a deficiency in the alpha-N-acetylglucosaminidase enzyme. As a result, glycosaminoglycans accumulate in the cells, blood, and connective tissues, leading to a range of symptoms that can significantly impact an individual’s quality of life. DNA Labs UAE offers a comprehensive genetic test for the NAGLU gene to help identify this condition in individuals showing symptoms of Mucopolysaccharidosis Type IIIB. The cost of the test is 4400 AED. For more information, please visit DNA Labs UAE.
Symptoms of Mucopolysaccharidosis Type IIIB
The symptoms of Mucopolysaccharidosis Type IIIB typically become apparent in childhood and can vary significantly in severity from one individual to another. Some of the most common symptoms include:
- Developmental delays, including delays in speech and walking
- Behavioral problems, such as hyperactivity, aggression, and difficulty sleeping
- Intellectual disability that progresses over time
- Stiff joints that may limit movement
- Coarse facial features, including a thickened nose and lips
- Recurrent ear infections and hearing loss
- Clouding of the cornea, which can lead to vision problems
- Cardiovascular problems, such as heart valve abnormalities
As the disease progresses, individuals may experience increasing difficulties with physical and mental functions, which can significantly impact their ability to perform daily activities.
Importance of Genetic Testing for NAGLU Gene
Genetic testing for the NAGLU gene is crucial for the accurate diagnosis of Mucopolysaccharidosis Type IIIB. Early diagnosis can enable families to seek supportive treatments that can help manage symptoms and improve quality of life. Additionally, understanding the genetic basis of the condition can provide valuable information for family planning and the assessment of risk for future children.
What to Expect from the NAGLU Gene Mucopolysaccharidosis Type 3B Genetic Test
The NAGLU gene Mucopolysaccharidosis Type 3B genetic test offered by DNA Labs UAE is a comprehensive test that analyzes the NAGLU gene for mutations known to cause the condition. The test is performed using a blood sample, and the process is straightforward and minimally invasive. Once the sample is collected, it is sent to the laboratory for analysis. The results of the test are typically available within a few weeks and will be provided to you along with detailed explanations and any relevant counseling.
The cost of the NAGLU gene Mucopolysaccharidosis Type 3B genetic test is 4400 AED. This investment in your health or the health of your loved one can provide crucial information for managing the condition and planning for the future.
For more information about the NAGLU gene Mucopolysaccharidosis Type 3B genetic test and to schedule your test, please visit DNA Labs UAE.
