Fabry Disease Quantitative Blood Test
Introduction
The Fabry Disease Quantitative Blood Test is a crucial diagnostic tool used to identify Fabry disease, a rare inherited metabolic disorder caused by the deficiency of the enzyme alpha-galactosidase A. Early detection is vital as it allows for timely intervention and management of the disease, which can lead to serious complications if left untreated.
What the Test Measures
This test measures the activity level of the enzyme alpha-galactosidase A in the blood. A lower than normal level of this enzyme indicates a potential diagnosis of Fabry disease, which can lead to various health issues, including kidney damage, heart problems, and neurological complications.
Who Should Consider This Test?
Individuals who should consider the Fabry Disease Quantitative Blood Test include:
- Those with a family history of Fabry disease.
- Patients exhibiting symptoms such as unexplained pain, skin rashes, or gastrointestinal issues.
- Individuals with kidney or heart conditions without a clear cause.
Benefits of Taking the Test
Taking the Fabry Disease Quantitative Blood Test offers numerous benefits:
- Early diagnosis can facilitate prompt treatment, improving patient outcomes.
- Helps in understanding genetic risks for family planning.
- Provides peace of mind for patients and their families regarding their health status.
Understanding Your Results
After the test, results will indicate the level of enzyme activity. A significantly low level suggests a diagnosis of Fabry disease, while normal levels may rule out the condition. It is essential to discuss your results with a healthcare professional to understand the implications and potential next steps.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| Fabry Disease Quantitative Blood Test | 70,000 NGN | 112,000 NGN |
How to Book the Test
To book the Fabry Disease Quantitative Blood Test, please contact us at +2348077798758 or visit our website to schedule your appointment. Our dedicated team is here to assist you with the booking process. Ensure to provide clinical details alongside your sample for accurate results.
Test Details
Turnaround Time: Sample Daily by 4 pm; Report in 4 days.
Sample Type: 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 the sample.
Specialty: Pediatrician
Department: Genetic
Method: Enzyme Assay
Disease Type: Inborn errors of metabolism
