GM1 Gangliosidosis Quantitative Blood Test
Cost: AED 400.0
Symptoms, Diagnosis, and Test Details
GM1 gangliosidosis is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the enzyme beta-galactosidase, which leads to the accumulation of GM1 ganglioside in the cells of the body. A quantitative blood test can be performed to measure the levels of beta-galactosidase enzyme activity in the blood.
During the test, a small sample of blood (10 ml) is taken from the patient. The sample should be collected using 3 Lavender Top (EDTA) or Green Top (Sodium heparin) tubes. It is important to ship the sample refrigerated and not freeze it. Clinical details must accompany the sample.
The test is conducted using the Enzyme Assay method and falls under the category of inborn errors of metabolism. The test is typically ordered by a pediatrician and is performed in the genetic department of the laboratory.
Pre Test Information
Clinical details must accompany the sample for accurate diagnosis.
Report Delivery
The report is delivered daily by 4 pm and usually takes 4 days to be generated.
Interpreting the Test Results
Normal levels of beta-galactosidase enzyme activity in the blood indicate that the patient does not have GM1 gangliosidosis. However, low levels of the enzyme may suggest a deficiency and a potential diagnosis of GM1 gangliosidosis.
It is important to note that a quantitative blood test alone is not sufficient to definitively diagnose GM1 gangliosidosis. Additional tests, such as genetic testing or imaging studies, may be needed to confirm the diagnosis. Therefore, a consultation with a geneticist or a specialist in metabolic disorders is recommended for a comprehensive evaluation and diagnosis of GM1 gangliosidosis.
| Test Name | GM1 GANGLIOSIDOSIS QUANTITATIVE BLOOD Test |
|---|---|
| Components | |
| Price | 400.0 AED |
| Sample Condition | 10 ml (7.5 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 |
GM1 gangliosidosis is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the enzyme beta-galactosidase, which leads to the accumulation of GM1 ganglioside in the cells of the body. A quantitative blood test can be performed to measure the levels of beta-galactosidase enzyme activity in the blood. This test can help diagnose GM1 gangliosidosis and determine the severity of the disease. During the test, a small sample of blood is taken from the patient and sent to a laboratory for analysis. The laboratory measures the amount of beta-galactosidase enzyme activity in the blood sample. Normal levels of the enzyme indicate that the patient does not have GM1 gangliosidosis, while low levels indicate a deficiency of the enzyme and a potential diagnosis of GM1 gangliosidosis. It is important to note that a quantitative blood test alone is not sufficient to diagnose GM1 gangliosidosis definitively. Additional tests, such as genetic testing or imaging studies, may be needed to confirm the diagnosis. A consultation with a geneticist or a specialist in metabolic disorders is recommended for a comprehensive evaluation and diagnosis of GM1 gangliosidosis. |
