FABRY DISEASE QUANTITATIVE BLOOD Test
Test Name: FABRY DISEASE QUANTITATIVE BLOOD Test
Components: 10 mL (5-7 mL min.) whole blood from 3 Lavender Top (EDTA) / Green Top (Sodium Heparin) tubes. Ship refrigerated. DO NOT FREEZE. Clinical details must accompany sample.
Price: 470.0 AED
Report Delivery: Sample Daily by 4 pm; Report 4 days
Method: Enzyme Assay
Test type: Inborn errors of metabolism
Doctor: Pediatrician
Test Department: GENETIC
Pre Test Information: Clinical details must accompany sample.
Introduction to Fabry Disease
Fabry disease is a rare genetic disorder caused by the deficiency of an enzyme called alpha-galactosidase A (AGA). This enzyme is responsible for breaking down a specific type of fat called globotriaosylceramide (GL-3). The deficiency of AGA leads to the accumulation of GL-3 in various organs and tissues of the body, including the kidneys, heart, and nervous system.
About the Test
A quantitative blood test for Fabry disease measures the levels of AGA in the blood. This test is used to diagnose and monitor the progression of the disease. It is typically performed in individuals who have symptoms suggestive of Fabry disease or have a family history of the condition.
During the test, a blood sample is taken from the individual, usually through a vein in the arm. The sample is then sent to a laboratory, where the level of AGA is measured using specialized techniques. The results of the test are reported as the amount of AGA present in the blood, usually in units such as nanomoles per milliliter (nmol/mL).
A low level of AGA in the blood indicates a deficiency of the enzyme, suggesting a diagnosis of Fabry disease. However, it is important to note that a normal level of AGA does not completely rule out the possibility of Fabry disease, as there are other genetic mutations that can also cause the condition.
Confirmation and Treatment
In addition to the quantitative blood test, other diagnostic methods may be used to confirm a diagnosis of Fabry disease, such as genetic testing or a biopsy of affected tissues. Treatment for Fabry disease typically involves enzyme replacement therapy to supplement the deficient AGA enzyme and manage symptoms.
For more information or to schedule a FABRY DISEASE QUANTITATIVE BLOOD Test, please consult a Pediatrician.
| Test Name | FABRY DISEASE QUANTITATIVE BLOOD Test |
|---|---|
| Components | |
| Price | 470.0 AED |
| Sample Condition | 10 mL (5\u0192??7 mL min.) whole blood from 3 Lavender Top (EDTA) \/ Green Top (Sodium Heparin) tubes. Ship refrigerated. DO NOT FREEZE. Clinical details must accompany sample. |
| Report Delivery | Sample Daily by 4 pm; Report 4 days |
| Method | Enzyme Assay |
| Test type | Inborn errors of metabolism |
| Doctor | Pediatrician |
| Test Department: | GENETIC |
| Pre Test Information | Clinical details must accompany sample. |
| Test Details | Fabry disease is a rare genetic disorder caused by the deficiency of an enzyme called alpha-galactosidase A (AGA). This enzyme is responsible for breaking down a specific type of fat called globotriaosylceramide (GL-3). The deficiency of AGA leads to the accumulation of GL-3 in various organs and tissues of the body, including the kidneys, heart, and nervous system. A quantitative blood test for Fabry disease measures the levels of AGA in the blood. This test is used to diagnose and monitor the progression of the disease. It is typically performed in individuals who have symptoms suggestive of Fabry disease or have a family history of the condition. During the test, a blood sample is taken from the individual, usually through a vein in the arm. The sample is then sent to a laboratory, where the level of AGA is measured using specialized techniques. The results of the test are reported as the amount of AGA present in the blood, usually in units such as nanomoles per milliliter (nmol/mL). A low level of AGA in the blood indicates a deficiency of the enzyme, suggesting a diagnosis of Fabry disease. However, it is important to note that a normal level of AGA does not completely rule out the possibility of Fabry disease, as there are other genetic mutations that can also cause the condition. In addition to the quantitative blood test, other diagnostic methods may be used to confirm a diagnosis of Fabry disease, such as genetic testing or a biopsy of affected tissues. Treatment for Fabry disease typically involves enzyme replacement therapy to supplement the deficient AGA enzyme and manage symptoms. |
