BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test
Test Name: BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test
Components: Price – 850.0 AED
Sample Condition: 2 mL (1 mL min.) serum from 1 SST OR 2 mL (1 mL min.) plasma from 1 Green Top (Sodium Heparin) tube. Ship refrigerated or frozen.
Report Delivery: Sample Daily by 4 pm; Report Same day
Method: Enzyme Assay
Test type: Inborn errors of metabolism
Doctor: Pediatrician
Test Department: GENETIC
Pre Test Information: No special preparation required
Test Details
The biotinidase activity quantitative blood test is a medical test that measures the level of biotinidase enzyme activity in the blood. Biotinidase is an enzyme that plays a crucial role in the breakdown and utilization of biotin, a B-vitamin essential for various metabolic processes in the body.
This test is primarily used to diagnose biotinidase deficiency, a rare genetic disorder in which the body is unable to properly process and use biotin. Biotinidase deficiency can lead to a range of symptoms, including skin rash, hair loss, seizures, developmental delays, and neurological problems.
The biotinidase activity quantitative blood test is typically performed on newborns as part of routine newborn screening programs. It involves collecting a small blood sample from the baby’s heel and sending it to a laboratory for analysis. The test measures the level of biotinidase enzyme activity in the blood, with lower activity levels indicating a potential deficiency.
If the test results indicate low biotinidase enzyme activity, further diagnostic tests, such as genetic testing, may be performed to confirm the diagnosis of biotinidase deficiency. Treatment for biotinidase deficiency typically involves lifelong biotin supplementation, which can help manage symptoms and prevent complications.
Overall, the biotinidase activity quantitative blood test is an important tool in diagnosing and managing biotinidase deficiency, allowing for early detection and treatment of the condition.
Test Name | BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test |
---|---|
Components | |
Price | 850.0 AED |
Sample Condition | 2 mL (1 mL min.) serum from 1 SST OR2 mL (1 mL min.) plasma from 1 Green Top (Sodium Heparin) tube. Ship refrigerated or frozen. |
Report Delivery | Sample Daily by 4 pm; Report Same day |
Method | Enzyme Assay |
Test type | Inborn errors of metabolism |
Doctor | Pediatrician |
Test Department: | GENETIC |
Pre Test Information | No special preparation required |
Test Details | The biotinidase activity quantitative blood test is a medical test that measures the level of biotinidase enzyme activity in the blood. Biotinidase is an enzyme that plays a crucial role in the breakdown and utilization of biotin, a B-vitamin essential for various metabolic processes in the body. This test is primarily used to diagnose biotinidase deficiency, a rare genetic disorder in which the body is unable to properly process and use biotin. Biotinidase deficiency can lead to a range of symptoms, including skin rash, hair loss, seizures, developmental delays, and neurological problems. The biotinidase activity quantitative blood test is typically performed on newborns as part of routine newborn screening programs. It involves collecting a small blood sample from the baby’s heel and sending it to a laboratory for analysis. The test measures the level of biotinidase enzyme activity in the blood, with lower activity levels indicating a potential deficiency. If the test results indicate low biotinidase enzyme activity, further diagnostic tests, such as genetic testing, may be performed to confirm the diagnosis of biotinidase deficiency. Treatment for biotinidase deficiency typically involves lifelong biotin supplementation, which can help manage symptoms and prevent complications. Overall, the biotinidase activity quantitative blood test is an important tool in diagnosing and managing biotinidase deficiency, allowing for early detection and treatment of the condition. |