Short Description

GM1 gangliosidosis is an autosomal recesssive disorder due to deficiency of beta-galactosidase which leads to deposition of GM1 ganglioside, glycoproteins and keratin sulphate in brain and body organs.

PreTest Information

Clinical details must accompany sample.

Detail Description

GM1 Gangliosidosis Quantitative Blood Test Cost INR 1989: Symptoms and Diagnosis

GM1 Gangliosidosis is a rare inherited disorder that affects the nervous system. It is caused by a deficiency of the enzyme beta-galactosidase, which leads to the accumulation of a specific type of fat in the body called ganglioside GM1. This build-up can cause damage to the brain and spinal cord, leading to a range of symptoms that can be severe and life-limiting.

Diagnosing GM1 Gangliosidosis can be difficult, as its symptoms can be similar to those of other neurological disorders. However, a quantitative blood test is available that can detect the presence of GM1 ganglioside in the blood, allowing for an accurate diagnosis to be made.

Symptoms of GM1 Gangliosidosis

The symptoms of GM1 Gangliosidosis can vary depending on the type of the condition and the age of onset. The three main types of GM1 Gangliosidosis are:

• Infantile-onset
• Juvenile-onset
• Adult-onset

Infantile-onset GM1 Gangliosidosis is the most severe form of the condition, and symptoms usually appear within the first few months of life. These can include:

• Poor feeding and failure to thrive
• Enlarged liver and spleen
• Developmental delays
• Seizures
• Progressive muscle weakness and spasticity
• Blindness and deafness

Juvenile-onset and adult-onset GM1 Gangliosidosis are less severe than the infantile-onset form, but can still cause significant disability. Symptoms of these forms can include:

• Progressive muscle weakness and atrophy
• Seizures
• Mental retardation
• Speech difficulties
• Loss of motor skills
• Spasticity

Diagnosing GM1 Gangliosidosis

Diagnosing GM1 Gangliosidosis can be challenging, as its symptoms can be similar to those of other neurological disorders. However, if a child or adult is showing signs of developmental delays, muscle weakness, or seizures, a doctor may suspect GM1 Gangliosidosis and order a quantitative blood test.

A quantitative blood test for GM1 Gangliosidosis measures the amount of ganglioside GM1 in the blood. If the levels of this fat are high, it can indicate that the individual has the condition.

GM1 Gangliosidosis Quantitative Blood Test Cost

The cost of a GM1 Gangliosidosis quantitative blood test in India is typically around INR 1989. However, this cost may vary depending on the laboratory where the test is performed and any additional fees that may be associated with the test.

Conclusion

GM1 Gangliosidosis is a rare neurological disorder that can have a significant impact on an individual's quality of life. However, with an accurate diagnosis, individuals with GM1 Gangliosidosis can receive appropriate treatment and support to manage their symptoms and improve their quality of life. If you or a loved one is showing symptoms of GM1 Gangliosidosis, speak to a doctor about the possibility of a quantitative blood test to confirm a diagnosis.

At DNA Labs India, we offer a range of DNA and genetic testing services to help individuals and families understand their genetic risks and make informed decisions about their health. Contact us today to learn more about our services.