Niemann-Pick Disease Quantitative Blood Test
Comprehensive Diagnostic Testing for Metabolic Disorders
The Niemann-Pick Disease Quantitative Blood Test represents a critical advancement in genetic metabolic testing, providing precise measurement of enzyme activity essential for diagnosing this rare inherited condition. As a specialized diagnostic tool, this test plays a vital role in identifying individuals affected by Niemann-Pick disease, enabling early intervention and appropriate medical management.
What is Niemann-Pick Disease?
Niemann-Pick disease encompasses a group of rare, inherited metabolic disorders characterized by the abnormal accumulation of lipids within cells, particularly affecting the brain, liver, and spleen. This condition results from deficiencies in specific enzymes responsible for breaking down lipids, leading to progressive neurological deterioration and organ damage if left undiagnosed.
What the Test Measures and Detects
This quantitative blood test specifically measures the activity levels of acid sphingomyelinase enzyme, which is deficient in Niemann-Pick disease types A and B. The test utilizes advanced enzyme assay methodology to provide accurate quantitative results that help:
- Measure precise enzyme activity levels in blood samples
- Differentiate between Niemann-Pick disease types A and B
- Identify carrier status in family members
- Monitor disease progression in diagnosed individuals
- Guide treatment decisions and management strategies
Who Should Consider This Test?
Clinical Indications and Symptoms
Individuals presenting with the following symptoms or risk factors should consider the Niemann-Pick Disease Quantitative Blood Test:
- Infants and children with developmental delays or regression
- Neurological symptoms including poor muscle tone, feeding difficulties, or loss of motor skills
- Organ enlargement such as hepatosplenomegaly (enlarged liver and spleen)
- Respiratory problems or recurrent lung infections
- Family history of Niemann-Pick disease or similar metabolic disorders
- Unexplained neurological deterioration in childhood
- Suspected metabolic disorders based on clinical presentation
Benefits of Taking the Test
Early diagnosis through the Niemann-Pick Disease Quantitative Blood Test offers numerous advantages for patients and families:
- Early Intervention: Enables timely medical management and treatment planning
- Accurate Diagnosis: Provides definitive confirmation of Niemann-Pick disease
- Family Planning: Assists in genetic counseling and reproductive decisions
- Treatment Guidance: Helps direct appropriate therapeutic interventions
- Prognostic Information: Offers insights into disease progression and expected outcomes
- Research Opportunities: Connects patients with clinical trials and emerging treatments
Understanding Your Test Results
Interpreting Enzyme Activity Levels
Test results are typically reported as enzyme activity levels, with interpretation as follows:
- Normal Range: Enzyme activity within expected parameters, indicating no evidence of Niemann-Pick disease
- Reduced Activity: Significantly decreased enzyme levels suggest Niemann-Pick disease diagnosis
- Carrier Status: Intermediate enzyme levels may indicate carrier status for the condition
- Follow-up Testing: Abnormal results typically require confirmatory genetic testing and specialist consultation
It’s essential to discuss your results with a qualified genetic counselor or metabolic specialist who can provide comprehensive interpretation and guidance based on your specific clinical situation.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | Niemann-Pick Disease Quantitative Blood Test |
| Discount Price | $64 USD |
| Regular Price | $72 USD |
| Turnaround Time | Sample Daily by 4 pm; Report 4 days |
| Sample Type | 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) / Green Top (Sodium Heparin) tubes |
| Shipping Instructions | Ship refrigerated. DO NOT FREEZE |
| Pre-test Requirements | Provide brief clinical history |
| Specialty | Pediatrician |
| Department | Genetic |
| Method | Enzyme Assay |
| Disease Type | Inborn Errors of Metabolism |
Nationwide Testing Availability
We have diagnostic branches conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified testing facilities ensures accessibility and convenience for patients nationwide.
Take Action Today
Don’t wait to get the answers you need. Early detection of Niemann-Pick disease can significantly impact treatment outcomes and quality of life. Our experienced genetic specialists and pediatric metabolic experts are ready to assist you through every step of the testing process.
Book your Niemann-Pick Disease Quantitative Blood Test today by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Our compassionate team is available to answer your questions and guide you through the testing process with professionalism and care.
Take the first step toward understanding your genetic health and securing the appropriate medical care for you or your loved one. Contact us now to schedule your comprehensive metabolic evaluation.
