Alpha Galactosidase Fabry Blood Test

This test measures the level of alpha-galactosidase in blood.

• To diagnose or evaluate treatment for Fabry disease.
• To screen close relatives or family members of people with Fabry disease.
• As part of newborn screening programs for genetic disorders.

Doctors may recommend this test in the following situations:

• If you have symptoms suggestive of Fabry disease, such as chronic pain, kidney problems, or skin lesions.
• If you have a family history of Fabry disease or other genetic disorders.
• If you are an asymptomatic female carrier of a pathogenic mutation for Fabry disease.

Reduced enzyme activity suggests the presence of Fabry disease or carrier status for the disease. A diagnosis of Fabry disease is usually confirmed by additional testing, such as genetic testing or biopsy.

• A healthcare professional will collect a blood sample from a vein in your arm.
• You may feel some pain or discomfort when the needle is inserted, but this discomfort is usually brief.
• The blood sample will be sent to a laboratory for analysis.

Before the test, your doctor may advise you to:

• Fast for several hours prior to the test.
• Avoid smoking and alcohol for at least 24 hours before the test.

Speak to your healthcare provider to understand any specific requirements based on your individual medical history.

Other tests that may be ordered along with the Alpha Galactosidase Fabry Blood Test include:

• Genetic Testing: This test helps identify mutations in the GLA gene that cause Fabry disease and can confirm a diagnosis.
• Biopsy: A tissue sample may be taken to evaluate enzyme activity in specific organs, such as skin or kidneys.

Alpha-galactosidase A activity assay

Fabry disease is a genetic disorder caused by a deficiency of an enzyme that is responsible for breaking down a fatty substance in the body. Without enough of this enzyme, the fatty substance accumulates in various tissues and organs, leading to the symptoms and complications associated with Fabry disease.

The alpha galactosidase test is a diagnostic tool that measures the activity of the alpha-galactosidase A enzyme in the body. It is primarily used to diagnose and monitor Fabry disease, a rare genetic disorder caused by a deficiency of this enzyme.

Yes, low alpha-galactosidase detected by the alpha galactosidase blood test can confirm a diagnosis of Fabry disease, especially in males. For females, genetic testing may be necessary to confirm the diagnosis.

Yes, free home sample collection is available for online bookings of alpha galactosidase fabry blood test in India. This convenient service allows you to have your blood sample collected from the comfort of your home.

Normal levels of alpha-galactosidase A activity are ≥1.2 nmol/mL/hour for males and ≥2.8 nmol/mL/hour for females. Results below these levels may indicate Fabry disease or carrier status.

Treatment options for Fabry disease include enzyme replacement therapy (ERT), which aims to supply the missing alpha-galactosidase A enzyme and prevent the buildup of harmful substances in the body.

Currently, there is no cure for Fabry disease. However, early diagnosis and treatment with enzyme replacement therapy can help prevent or slow the progression of life-threatening complications associated with the disorder.

The alpha galactosidase test is used to diagnose and monitor Fabry disease. It is also used to verify abnormal serum alpha-galactosidase results in individuals with suggestive clinical presentations.

The frequency of testing depends on clinical necessity. It is typically done during diagnosis, monitoring of treatment, or as part of family screening. The alpha galactosidase test is not a routine test and is usually performed as needed.

The alpha galactosidase test can be done at any time.

No, fasting is not required for the alpha galactosidase test.

Low alpha-galactosidase A levels detected by the alpha galactosidase blood test indicate a deficiency of the enzyme, which is consistent with a diagnosis of Fabry disease. Low levels may also suggest carrier status in females.

The alpha galactosidase test measures the activity of the alpha-galactosidase A enzyme in blood samples, such as leukocytes or serum. In newborns, the test may be performed using blood spots obtained from a heel prick.

The alpha galactosidase fabry blood test involves collecting a blood sample in specific tubes, shipping it refrigerated, and analyzing the alpha-galactosidase A activity using enzyme assays or other biochemical methods.

The alpha galactosidase test should be done when there is a suspected diagnosis of Fabry disease based on clinical symptoms, family history, or abnormal newborn screening results. It may also be performed to monitor the effectiveness of treatment.

The blood sample collection for the alpha galactosidase test takes only a few minutes.

The turnaround time for alpha galactosidase test reports may vary depending on the healthcare provider and lab. Typically, results are available 10 days after based on the day/date the sample was collected and processed.