Sphingolipidosis Panel 2 Test
Introduction to the Sphingolipidosis Panel 2 Test
The Sphingolipidosis Panel 2 Test is a specialized diagnostic tool designed to identify specific genetic disorders associated with sphingolipid metabolism, particularly Gaucher Disease and Niemann Pick Disease. These conditions are classified as inborn errors of metabolism and can significantly impact the health and development of affected individuals, especially children. Early diagnosis is crucial for effective management and treatment, making this test an invaluable resource for pediatricians and healthcare providers.
What the Test Measures
This test measures enzyme activity related to sphingolipid metabolism. Specifically, it assesses:
- Gaucher Disease
- Niemann Pick Disease
By evaluating these enzymes, the test can help diagnose these conditions accurately.
Who Should Consider This Test?
The Sphingolipidosis Panel 2 Test is recommended for individuals who exhibit symptoms or have risk factors associated with Gaucher and Niemann Pick Diseases. Symptoms may include:
- Enlarged liver or spleen
- Bone pain or fractures
- Neurological symptoms
Families with a history of these conditions are also encouraged to consider this test for early detection and management.
Benefits of Taking the Test
Taking the Sphingolipidosis Panel 2 Test offers numerous benefits:
- Early diagnosis of potentially life-altering conditions
- Guidance for treatment options and management strategies
- Peace of mind for families through understanding genetic risks
Understanding Your Results
Results from the Sphingolipidosis Panel 2 Test will indicate whether enzyme activity is within normal ranges or if there are deficiencies indicative of Gaucher or Niemann Pick Diseases. It is essential to discuss results with a healthcare provider to understand their implications fully and to explore potential next steps.
Test Pricing Information
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 110,000 NGN |
| Regular Price | 180,000 NGN |
Book Your Test Today!
Don’t wait for symptoms to appear! Ensure your child’s health by booking the Sphingolipidosis Panel 2 Test today. For inquiries or to schedule your appointment, call or WhatsApp us at +2348077798758.
Test Details
- Turnaround Time: Sample Daily by 4 PM; Report in 4 Days
- Sample Type: 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) / Green Top (Sodium Heparin) tubes. Ship refrigerated within 48 hrs. DO NOT FREEZE. Clinical history must accompany the sample.
- Pre-Test Instructions: Provide brief clinical history.
- Specialty: Pediatrician
- Department: Genetic
- Method: Enzyme assay
- Disease Type: Inborn errors of metabolism
