Niemann Pick Disease Quantitative Blood Test
Introduction to the Test
The Niemann Pick Disease Quantitative Blood Test is a crucial diagnostic tool used to detect Niemann-Pick disease, a rare genetic disorder that affects lipid metabolism in the body. This test is vital for early diagnosis and management, allowing healthcare providers to tailor interventions that can significantly improve the quality of life for affected individuals.
What the Test Measures
This blood test specifically measures the levels of sphingomyelinase enzyme activity, which is essential for the breakdown of sphingomyelin, a type of fat found in cell membranes. Reduced enzyme activity can indicate the presence of Niemann-Pick disease, helping in the diagnosis of this condition.
Who Should Consider This Test
Individuals who exhibit symptoms such as unexplained neurological issues, liver enlargement, or developmental delays should consider this test. Additionally, those with a family history of Niemann-Pick disease or other genetic disorders may also benefit from testing.
Benefits of Taking the Test
- Early detection of Niemann-Pick disease can lead to timely intervention.
- Helps in understanding the metabolic issues affecting the patient.
- Guides treatment options and management strategies tailored to the individual’s needs.
- Provides peace of mind for families concerned about genetic disorders.
Understanding Your Results
Results from the Niemann Pick Disease Quantitative Blood Test will indicate the enzyme activity levels. A lower than normal level may suggest the presence of Niemann-Pick disease, while normal levels can help rule out the condition. It is essential to discuss the results with your healthcare provider for proper interpretation and guidance on the next steps.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 5124 |
| Regular Price | 5694 |
Sample Collection Details
Sample type: 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) / Green Top (Sodium Heparin) tubes. Ship refrigerated. DO NOT FREEZE. Provide brief clinical history.
Test Turnaround Time
Samples are collected daily by 4 PM, with results available in 4 days.
Book Your Test Today!
We have branches across Kenya and offer a home sample collection service for your convenience. To book the Niemann Pick Disease Quantitative Blood Test or for more information, please call or WhatsApp us at +254711564616.
