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This test diagnoses ganglioside-related diseases like Tay each and Sandhoff syndrome. Both these diseases are GM2 gangliosidosis, an autosomal recessive disorder.
It is a glycosphingolipid antigen. It is seen dominantly in patients who have cancer.
What do you mean by GM2 Gangliosidosis? It is an inherited disorder that damages the nerve cells of the brain. In children, the various symptoms seen are:
This inherited disease also attacks the whim-whams cells of the brain. It can do at any age- babies, kids, and grown-ups.
Alterations in the HEXB gene cause sandhSandhoffrder. This gene is responsible for the formation of enzymes named- beta-hexosaminidase A and beta-hexosaminidase B. These are the dustbin for the cells. They also break fatty acids.
It's also an inheritable disease. An enzyme that breaks adipose acids is dropped in this complaint. The gangliosides make poisonous accouterments in the brain.
Pyrimethamine was started orally as a daily dose of 6.25 mg/day for four weeks, then increased by 6.25 mg/day in four-week steps, with a target to reach a final amount of 50 mg/day.
>>Leucovorin was co-administered with Pyrimethamine at a dose level of 15 mg/day to eliminate or minimize potential hematologic effects given when Pyrimethamine is administered.
The sample is collected by the patient and
Test Type | GM2 Gangliosidosis, Quantitative, Blood; Tay Sachs And Sandhoff Disease |
Includes | GM2 Gangliosidosis, Quantitative,Blood; Tay Sachs And Sandhoff Disease Test (Pediatrics) |
Preparation | |
Reporting | Within 24 hours* |
Test Price |
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