Alpha Galactosidase (Fabry) - Price, Normal Range | Sprint Diagnostics Hyderabad

The primary reason for performing an Alpha Galactosidase test is to diagnose Fabry disease, a rare genetic disorder caused by a deficiency in this enzyme. The disorder leads to a buildup of globotriaosylceramide in various parts of the body, including the skin, kidneys, heart, and nervous system.

The test is performed on a sample of blood, typically drawn from a vein in the arm. The sample is then sent to a laboratory where the enzyme activity is measured.

A healthcare provider might order this test if a patient exhibits symptoms of Fabry disease. These symptoms can include pain in the hands and feet, small, dark red spots on the skin, decreased sweating, and cloudiness of the front part of the eye. The test may also be ordered if there is a known family history of the disease.

Results of the Alpha Galactosidase test are reported in units per liter (U/L). Lower-than-normal levels of Alpha Galactosidase may suggest Fabry disease. However, diagnosis is typically confirmed with molecular genetic testing that can identify the specific mutation in the GLA gene, which codes for the Alpha Galactosidase enzyme.

Low levels of Alpha Galactosidase in the blood may suggest Fabry disease. This is a rare genetic disorder that leads to a buildup of globotriaosylceramide in various parts of the body, causing a range of symptoms. These symptoms may include pain in the hands and feet, small, dark red spots on the skin, decreased sweating, and cloudiness of the front part of the eye.

Certain medications, health conditions, and dietary factors can affect the levels of Alpha Galactosidase in the blood. It's important to inform your healthcare provider of any medications you are taking, as well as any recent illnesses or medical conditions.

The risks associated with the Alpha Galactosidase test are minimal and are similar to those of any routine blood draw. This can include slight pain or bruising at the site where the needle was inserted.

Typically, no special preparation is needed for an Alpha Galactosidase test. However, always follow any specific instructions provided by your healthcare provider.

The turnaround time for the Alpha Galactosidase test is typically 3-5 days. However, this can vary depending on the laboratory.

While low levels of Alpha Galactosidase can suggest Fabry disease, a definitive diagnosis usually requires genetic testing to identify mutations in the GLA gene, which codes for the enzyme.

Treatment for Fabry disease focuses on managing symptoms and preventing complications. This can include medications to relieve pain, drugs that reduce the buildup of globotriaosylceramide in the body, and enzyme replacement therapy. In some cases, kidney transplantation may be needed.

People with symptoms suggestive of Fabry disease or those with a known family history of the condition may benefit from testing. However, this test is not typically included in routine screening due to the rarity of the condition.

This test is also known as an Alpha-Galactosidase A activity test, Alpha-Gal A test, or simply a Fabry disease test.

As of now, there is no known cure for Fabry disease. Treatment focuses on managing symptoms, reducing complications, and improving the quality of life for affected individuals. Ongoing research continues to explore potential new treatments for this rare genetic condition.