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GM2 Gangliosidosis - Quantitative Blood Test

GM2 Gangliosidosis - Quantitative Blood Test

The GM2 Gangliosidosis - Quantitative Blood test is an essential diagnostic tool for detecting GM2 Gangliosidoses, a group of rare and genetic neurological disorders. This includes conditions such as Tay-Sachs disease and Sandhoff disease, which are characterized by the buildup of fatty substances called GM2 gangliosides in the neurons. These disorders progressively destroy nerve cells (neurons) in the brain and spinal cord.


  • Test Name GM2 Gangliosidosis - Quantitative Blood Test (Tay Sach's & Sandhoff Disease)
  • Sample Type Blood
  • Preparations Required No specific instructions are necessary for this test. You should follow any guidelines given by your doctor or the testing laboratory.
  • Report Time 5 days

This test measures the levels of specific enzymes—Hexosaminidase A (Hex A) and Hexosaminidase B (Hex B)—in the blood. The deficiency of these enzymes, specifically Hex A, leads to the accumulation of GM2 gangliosides, causing GM2 Gangliosidoses. The outcomes of this test are vital for diagnosing and managing these conditions.

Home Sample Collection Process
1
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Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
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Frequently Asked Questions

This test is crucial for diagnosing GM2 Gangliosidoses, including Tay-Sachs disease and Sandhoff disease. By measuring the levels of Hex A and Hex B enzymes in the blood, it can help detect enzyme deficiencies leading to these conditions.

No, fasting is not typically required for this test. However, follow any instructions given by your doctor or testing laboratory.

If you or your child exhibit symptoms of GM2 Gangliosidoses, such as developmental delay, muscle weakness, or seizures, your doctor might recommend this test. Additionally, if you have a family history of these conditions, genetic testing may be advised.

The test measures the levels of Hexosaminidase A and B enzymes in your blood. A deficiency of these enzymes, particularly Hex A, can lead to a buildup of GM2 gangliosides in neurons, causing GM2 Gangliosidoses.

The frequency of testing depends on your doctor's recommendation, your health condition, symptoms, and whether you're undergoing treatment for GM2 Gangliosidoses.

Normal values can vary depending on the laboratory and the method used. Your doctor or the lab report should provide you with the normal reference range for Hex A and Hex B levels.

There are no specific precautions needed for this test. It's always a good idea to inform your doctor about any medications, vitamins, or supplements that you're taking.

The main factor affecting your GM2 Gangliosidosis levels is whether you have the condition. It's a genetic disorder, so the most significant risk factor is having a family history of GM2 Gangliosidoses.

If your test results are abnormal, you should consult a geneticist or a neurologist who specializes in metabolic disorders. They can guide you on the next steps based on your results.

This test measures the levels of specific enzymes, not GM2 Gangliosidosis levels. Low levels of Hex A enzyme in the blood can indicate Tay-Sachs disease, while deficiencies in both Hex A and Hex B enzymes can signal Sandhoff disease.

Again, the test measures enzyme levels, not GM2 Gangliosidosis levels. Low levels of the Hex A or both Hex A and Hex B enzymes could suggest GM2 Gangliosidoses, such as Tay-Sachs or Sandhoff disease.

GM2 Gangliosidoses are genetic disorders that cannot be controlled with lifestyle changes. However, managing symptoms and improving quality of life with physical therapy, special education, and supportive care is possible.

If your enzyme levels suggest GM2 Gangliosidoses, treatment options mainly focus on managing symptoms and may include medications, physical therapy, and supportive care. Genetic counseling could also be beneficial.

GM2 Gangliosidoses are genetic conditions, and medications do not influence enzyme levels. However, medications can be used to manage symptoms.

Dietary changes do not affect the level of Hex A and Hex B enzymes in the blood. However, a balanced diet can support overall well-being.

Understanding your GM2 Gangliosidosis - Quantitative Blood test results can be a crucial step toward managing these severe genetic disorders. While dealing with these conditions can be challenging, remember that your doctor is your best resource and guide through your health journey.

GM2 Gangliosidosis - Quantitative blood (Tay Sach's & Sandhoff Disease)
₹ 2000
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