Genetic testing has revolutionized the way we understand and manage genetic disorders. Among these, GM2-Gangliosidosis Type 2, also known as Sandhoff disease, is a rare, inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The HEXB gene is responsible for this condition, and mutations in this gene lead to the accumulation of harmful substances within the cells, causing the symptoms associated with the disease. At DNA Labs UAE, we offer a comprehensive genetic test for the HEXB gene GM2-Gangliosidosis Type 2, priced at 4400 AED. For more information, visit our website at https://dnalabsuae.com/tests/hexb-gene-gm2-gangliosidosis-type-2-genetic-test/.
Symptoms of HEXB Gene GM2-Gangliosidosis Type 2
The symptoms of GM2-Gangliosidosis Type 2 typically begin in infancy or early childhood. These symptoms are progressive and vary in severity from person to person. It is crucial for parents and caregivers to be aware of the signs and symptoms of this condition, as early detection and management can significantly impact the quality of life of the affected individual.
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Motor Skill Regression: One of the earliest signs of GM2-Gangliosidosis Type 2 is the loss of motor skills that the child has previously acquired. This includes difficulties in crawling, sitting, or walking.
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Muscle Weakness: Affected children may exhibit decreased muscle tone (hypotonia) and weakness, making it challenging for them to perform physical activities.
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Seizures: Recurrent seizures are a common symptom due to the progressive damage to the nervous system.
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Vision and Hearing Loss: Progressive loss of vision and hearing can occur as the disease advances.
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Intellectual Disability: As GM2-Gangliosidosis Type 2 progresses, there can be a noticeable decline in cognitive abilities, leading to intellectual disability.
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Cherry-red Spot on the Retina: Many affected individuals have a distinctive cherry-red spot on their retina, visible through an eye examination.
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Enlarged Organs: The liver and spleen may become enlarged (hepatosplenomegaly) due to the accumulation of harmful substances.
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Respiratory Infections: Individuals with GM2-Gangliosidosis Type 2 are more susceptible to respiratory infections due to weakened muscles and a compromised immune system.
Understanding the HEXB Gene GM2-Gangliosidosis Type 2 Genetic Test
The genetic test for HEXB Gene GM2-Gangliosidosis Type 2 at DNA Labs UAE is a sophisticated diagnostic tool designed to detect mutations in the HEXB gene that are responsible for the condition. This test is crucial for confirming the diagnosis, understanding the severity of the disease, and planning appropriate management strategies. Priced at 4400 AED, the test is an investment in your child’s health and future, offering valuable insights into their condition.
Why Choose DNA Labs UAE for Your Genetic Testing Needs?
At DNA Labs UAE, we are committed to providing high-quality genetic testing services that meet the needs of our clients. Our HEXB gene GM2-Gangliosidosis Type 2 genetic test is conducted by experienced professionals using state-of-the-art technology to ensure accurate and reliable results. By choosing DNA Labs UAE, you are ensuring that you receive comprehensive support throughout the testing process, from initial consultation to post-test counseling. Our commitment to excellence makes us the preferred choice for genetic testing in the UAE.
In conclusion, GM2-Gangliosidosis Type 2 is a severe genetic disorder that requires early detection and management. The HEXB gene genetic test offered by DNA Labs UAE is an essential tool in diagnosing this condition, providing families with the information they need to make informed decisions about their child’s health. For more information or to schedule a test, visit our website today.
