Test Price
280 AED✅ Home Collection Available
Executive Summary & Core Metrics
Executive Summary
Gain definitive diagnostic clarity with our ISO-accredited Niemann-Pick Quantitative Blood Test. This fluorometric enzyme assay measures acid sphingomyelinase activity in leukocytes, confirming types A and B with 99.9% diagnostic sensitivity. For 280 AED, you receive hospital-grade home collection via cold-chain logistics, 4‑day reporting, and post‑test telephonic clinical guidance from a DHA‑licensed specialist.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The Niemann‑Pick Disease Quantitative Blood Test is a specialized enzyme assay that quantifies acid sphingomyelinase activity in leukocytes, essential for diagnosing autosomal recessive lysosomal storage disorders Niemann‑Pick types A and B (ICD‑10‑CM: E75.240, E75.241, E75.242). In the UAE, this test bridges expert paediatric, genetic, and neurological consultations under DHA standards.
| Feature | Our Test (Premium) | Closest Alternative |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity | ~92% (unaccredited lab) |
| Methodology | Fluorometric Enzyme Assay (LC‑MS/modern) | Older spectrophotometric assay |
| Speed | 4 working days | 7–10 days |
Physician Insight & Safety Protocols
"I understand the anxiety surrounding a suspected lysosomal storage disorder diagnosis; this quantitative test precisely measures acid sphingomyelinase activity, essential for confirming Niemann‑Pick types A and B. Results must always be correlated with clinical presentation and genetic counselling."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Safety Considerations
Critical Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Enzyme results must be interpreted alongside full clinical assessment.
Exclusion Criteria & Patient Safety
- Do not undergo this test if you have received a blood transfusion or enzyme replacement therapy within the last 4 weeks (may interfere with enzyme levels).
- Contraindicated in active hemolysis or severe thrombocytopenia; specimen will be rejected if visibly hemolyzed or clotted.
- Emergency Red Flags: Sudden neurological deterioration, loss of consciousness, seizures, acute abdominal distension or hepatosplenic rupture risk – seek immediate emergency care, do not wait for test results.
Patient FAQ & Clinical Guidance
1. What exactly does the Niemann-Pick Disease Quantitative Blood Test measure, and why is it needed?
This quantitative test measures acid sphingomyelinase enzyme activity in leukocytes to confirm Niemann‑Pick types A/B. The test quantifies the enzyme’s functional activity, which is deficient in types A and B. Early confirmation enables targeted management, genetic counselling, and access to emerging therapies within DHA‑regulated pathways.
2. Why does the test cost 280 AED, and what is included?
This transparent fee covers the entire care cycle: a phlebotomist’s home visit with refrigerated transport, advanced fluorometric analysis in our DHA‑licensed facility, a comprehensive report, and a personalised post‑test telephone consultation with a DHA specialist. Includes VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection.
3. How should I prepare for the blood collection?
No fasting is needed. Inform our team about all current medications, any recent transfusions or enzyme infusions, and provide a concise clinical summary. This ensures accurate interpretation and avoids interference. Avoid blood transfusions and enzyme therapy 4 weeks prior to draw.
4. When will I receive my results, and how are they delivered?
Results are delivered within 4 working days via secure digital report and followed by a telephonic consultation. The report includes quantitative enzyme activity values, reference ranges, and interpretive comments from the consulting geneticist.
5. Is home collection available for this test?
Yes. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM across all UAE emirates. A trained phlebotomist visits your location to collect the blood sample under strict cold-chain conditions.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
- Data security complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- All clinical testing and patient consent processes adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- This test is reviewed and clinically overseen by Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
- Corporate Laboratory Branding: DNA Labs UAE. DHA Facility License: 1143. Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | Niemann-Pick Disease Quantitative Blood Test |
| Price (AED) | 280 AED |
| Turnaround Time | 4 working days |
| Sample Type / Matrix | Peripheral whole blood (leukocytes) |
| Methodology Used | Fluorometric Enzyme Assay (LC‑MS/modern) |
| ICD-10-CM Code | E75.240, E75.241, E75.242 |
| LOINC Code | 17874-9 |
| DHA Facility License & Lab Address | DHA Facility License Number: 1143. Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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