GM2 Gangliosidosis, Quantitative,Blood; Tay Sachs and Sandhoff Disease Test and Its Price in India

This test diagnoses ganglioside-related diseases like Tay each and Sandhoff syndrome. Both these diseases are GM2 gangliosidosis, an autosomal recessive disorder.

What is GM2 Ganglioside?

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:

• Weak muscle movement
• Loss of motor skills
• Fear of loud music
• Paralysis
• Seizures
• Abnormal eye

What's Sandhoff Disease?

This inherited disease also attacks the whim-whams cells of the brain. It can do at any age- babies, kids, and grown-ups.

Causes of Sandhoff Disease

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.

What's Tay- Sachs Disease?

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.

Symptoms of Tay Sachs Disease

• Weak muscle movement
• Loss of motor chops
• Fear of loud music
• Palsy
• Seizures
• Abnormal eye
• Hearing loss and deafness
• Problems swallowing
• Loss of internal functions and a lack of response to surroundings
• Growth in head size( progressive macrocephaly
• Geste problems
• Gradational loss of chops off

Protocol

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.

What Kind of sample is required?

The sample is collected by the patient and

• The patient can catch the stool on a plastic bag loosely tied over the toilet bowl and then store it in a clean container.
• A Liquid stool sample is to be collected in a container.
• The stool sample should be clear of urine.
• The sample. should be examined or transported on the spot or frozen in the refrigerator.