Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare, inherited genetic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. This enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various body tissues, causing a range of symptoms that can affect appearance, physical abilities, organ and system functioning, and, in severe cases, cognitive development. The IDS (iduronate 2-sulfatase) gene is responsible for this condition, and mutations in this gene are what lead to MPS II. DNA Labs UAE offers a comprehensive genetic test for the IDS gene to help diagnose Mucopolysaccharidosis Type II, priced at 4400 AED. For more information, please visit our website.
Symptoms of Mucopolysaccharidosis Type II
The symptoms of MPS II vary widely among individuals affected by the disorder, ranging from mild to severe. They usually appear between the ages of 2 and 4 years old. Early diagnosis and intervention can be crucial in managing the symptoms and improving the quality of life for those affected. The following are some of the symptoms associated with Mucopolysaccharidosis Type II:
- Physical Appearance: Individuals may have distinctive facial features such as a broad head, thick lips, a broad nose, and an enlarged tongue.
- Skeletal Abnormalities: Common issues include short stature, joint stiffness, and dysostosis multiplex, a condition that refers to multiple skeletal abnormalities seen on X-ray.
- Respiratory Problems: Frequent infections, obstructive airway disease, and sleep apnea are common respiratory issues.
- Cardiovascular Issues: Heart valve abnormalities and hypertension can occur.
- Gastrointestinal Problems: Including chronic diarrhea and hepatosplenomegaly (enlarged liver and spleen).
- Hearing and Vision Impairment: Hearing loss and vision problems due to retinal degeneration or corneal clouding are common.
- Neurological Symptoms: In severe cases, there can be progressive cognitive decline, seizures, and hydrocephalus (accumulation of fluid in the brain).
It is important to note that the severity and progression of these symptoms can vary greatly among individuals with MPS II. Early and accurate diagnosis through genetic testing can aid in managing symptoms and planning for appropriate treatments.
IDS Gene Mucopolysaccharidosis Type 2 Genetic Test at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test for diagnosing Mucopolysaccharidosis Type II, targeting mutations in the IDS gene. The test is priced at 4400 AED and is an essential tool for early detection of the disease. Early diagnosis can significantly impact the management and treatment options for affected individuals, potentially improving their quality of life.
Our genetic testing process is straightforward and requires only a simple blood sample. The sample is then analyzed in our state-of-the-art laboratory facilities, where our team of experts looks for mutations in the IDS gene that are known to cause MPS II. The results of this test can provide invaluable information for families, allowing for early intervention and the management of symptoms.
For more information about the IDS gene Mucopolysaccharidosis Type 2 genetic test and to schedule an appointment, please visit our website. Our team is dedicated to providing the highest quality care and support through advanced genetic testing services.
