Mucopolysaccharidosis type VII, also known as Sly syndrome, is a rare genetic disorder caused by a deficiency in the enzyme beta-glucuronidase, which is coded by the GUSB gene. This enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various body tissues, causing a wide range of symptoms. DNA Labs UAE offers a comprehensive genetic test for the GUSB gene to identify mutations associated with Mucopolysaccharidosis type VII. The cost of this test is 4400 AED.
Symptoms of Mucopolysaccharidosis Type VII
The symptoms of Mucopolysaccharidosis type VII can vary widely among affected individuals, ranging from mild to severe. They typically become apparent in early childhood, but in some cases, symptoms may not be noticeable until later in life. The most common symptoms include:
- Short stature and skeletal abnormalities, such as dysostosis multiplex, which includes a variety of skeletal malformations.
- Developmental delays, including speech and motor skills.
- Coarse facial features, such as a broad nose and thick lips.
- Clouding of the cornea, which can lead to vision problems.
- Hepatosplenomegaly, which is an enlargement of the liver and spleen.
- Heart valve abnormalities, which can affect heart function.
- Respiratory problems and recurrent respiratory infections.
- Hearing loss.
It is important to note that the severity and presence of these symptoms can vary significantly from person to person.
Genetic Testing for Mucopolysaccharidosis Type VII
DNA Labs UAE offers a genetic test for the GUSB gene to help diagnose Mucopolysaccharidosis type VII. This test is particularly useful for families with a history of the disorder or for individuals who present symptoms associated with the disease. The genetic test involves analyzing the DNA to identify mutations in the GUSB gene that are known to cause the enzyme deficiency. By confirming the diagnosis through genetic testing, families and healthcare providers can better understand the condition and make informed decisions about treatment and management.
The cost of the GUSB gene mucopolysaccharidosis type VII genetic test at DNA Labs UAE is 4400 AED. For more information about the test and to schedule an appointment, please visit DNA Labs UAE.
Importance of Early Diagnosis and Intervention
Early diagnosis and intervention are crucial in managing Mucopolysaccharidosis type VII. While there is currently no cure for the disorder, early treatment can significantly improve the quality of life for affected individuals. Treatment options may include enzyme replacement therapy, which can help reduce the accumulation of GAGs in the body, and supportive therapies to manage symptoms. Physical therapy, occupational therapy, and speech therapy can also be beneficial in addressing developmental delays and improving mobility and communication skills.
Conclusion
Mucopolysaccharidosis type VII is a complex disorder with a wide range of symptoms. Genetic testing for mutations in the GUSB gene is a critical step in diagnosing the condition and guiding treatment decisions. DNA Labs UAE offers a comprehensive genetic test for Mucopolysaccharidosis type VII at a cost of 4400 AED. For families affected by this rare genetic disorder, early diagnosis and intervention can make a significant difference in managing the condition and improving outcomes.
For more information and to schedule a genetic test, please visit DNA Labs UAE.
