Short Description

NGS genetic DNA test detecets for variant and mutation detection in HEXB gene for Sandhoff disease

PreTest Information

Clinical History of Patient who is going for HEXB Gene Sandhoff disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Sandhoff disease

Detail Description

HEXB Gene Sandhoff Disease NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Sandhoff disease is a rare genetic disorder that affects the central nervous system. It is caused by a deficiency in the HEXB gene, which is responsible for producing an enzyme called beta-hexosaminidase. This enzyme is essential for breaking down a specific type of fat called gangliosides.

When gangliosides build up in the body, they can damage nerve cells in the brain and spinal cord, leading to a range of symptoms. These can include:

• Delayed development
• Seizures
• Muscle weakness
• Difficulty swallowing and feeding
• Loss of vision and hearing
• Intellectual disability

Sandhoff disease is typically diagnosed in infancy or early childhood, although some cases may not present until later in life. Diagnosis is usually based on a combination of symptoms, medical history, and genetic testing.

NGS (Next Generation Sequencing) Genetic DNA testing is one method that can be used to diagnose Sandhoff disease. This test looks for mutations in the HEXB gene that are associated with the condition. The test involves analyzing a sample of the patient's DNA, usually obtained through a blood test or cheek swab.

The cost of NGS Genetic DNA testing for Sandhoff disease in India can vary depending on the provider and location. However, on average, the cost is around INR 20,000.

If you suspect that you or your child may have Sandhoff disease, it is essential to seek medical attention promptly. Early diagnosis and treatment can help manage symptoms and improve quality of life.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA testing for Sandhoff disease. Our team of experts is committed to providing accurate and reliable results that can help guide treatment and management decisions. Contact us today to learn more about our services and how we can help you.