Test Price
900 AED✅ Home Collection Available
Sphingolipidosis Panel 3 Test in Dubai, UAE | 900 AED
Executive Summary & Core Metrics
- Clinical Utility: Quantifies key lysosomal enzymes to diagnose Gaucher, Niemann–Pick, and Fabry diseases.
- Methodology: LC-MS/MS corroborated fluorometric enzyme activity assay (ISO 15189 aligned).
- Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Price: 900 AED (all inclusive).
- Physician Oversight: Results reviewed and signed off by Consultant Medical Genetics (DHA ID: 9294403).
- Corporate Lab: Operated by DNA Labs UAE under DHA Facility License 1143.
Test Overview & Methodology
The Sphingolipidosis Panel 3 is an advanced diagnostic tool designed to detect inborn errors of sphingolipid metabolism. This enzyme activity profiling test specifically measures the activity of acid sphingomyelinase, glucocerebrosidase, and alpha-galactosidase A to confirm or rule out Niemann–Pick, Gaucher, and Fabry diseases respectively. Early and accurate diagnosis is crucial for initiating enzyme replacement therapy and preventing irreversible organ damage.
| Feature | Our Sphingolipidosis Panel 3 | Closest Alternative |
|---|---|---|
| Precision | LC‑MS/MS‑corroborated fluorometric assay; ISO 15189 aligned | Standard fluorometry without mass‑spec confirmation |
| Methodology | Enzyme Activity Assay (Fluorometry + LC‑MS/MS backup), fully automated | Manual fluorometric assay; longer turnaround, lower sensitivity |
| Speed | Report in 4 working days | 7 – 10 working days |
Physician Insight & Safety Protocols
"Enzyme panel results provide a biochemical snapshot that must be integrated with the patient's full clinical presentation, including symptom chronology, imaging findings, and pedigree analysis. This panel is a powerful diagnostic compass, but it does not replace a comprehensive metabolic workup or genetic counselling. Always review the results with a qualified specialist before initiating or altering therapy."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403)
Medication Safety Advisory
Do not discontinue any prescribed medication, including enzyme replacement therapy (ERT) or pharmacological chaperones, without explicit instruction from your treating physician. Abrupt cessation of therapy may precipitate acute metabolic crises or irreversible clinical decline.
Exclusion Criteria & Emergency Red Flags
- Recent transfusion: Blood or platelet transfusions within the last 2 weeks may transiently normalize enzyme levels, leading to false-negative results.
- ERT timing: Enzyme replacement therapy infusions within the last 48 hours can artificially elevate enzyme activity. Schedule the blood draw immediately before the next infusion.
- Emergency signs: If the patient develops acute neurological deterioration, unexplained seizures, sudden organ enlargement, or respiratory distress, seek emergency medical care immediately. Do not wait for laboratory results.
Patient FAQ & Clinical Guidance
1. What is the Sphingolipidosis Panel 3 test used for?
This enzyme panel measures the activity of three key lysosomal enzymes: acid sphingomyelinase, glucocerebrosidase, and alpha-galactosidase A. It is used to diagnose Niemann-Pick disease (types A/B), Gaucher disease, and Fabry disease. Physicians typically refer patients presenting with unexplained organomegaly, bone pain, angiokeratomas, or progressive neurological decline for this evaluation.
2. How should I prepare for the blood draw?
Fasting is not required for this test. However, you must provide a brief clinical history, a complete list of current medications, and any prior relevant diagnoses. The sample requires 10 mL of whole blood collected in EDTA or sodium heparin tubes. Our home collection team follows ISO-certified cold-chain protocols to ensure sample integrity from your location to our laboratory.
3. What do low enzyme activity results mean?
Low enzyme activity typically indicates a specific enzyme deficiency linked to a sphingolipid storage disorder. For instance, markedly reduced glucocerebrosidase activity strongly suggests Gaucher disease. These biochemical findings are always correlated with clinical symptoms and confirmed through molecular genetic analysis of the corresponding gene (e.g., GBA, SMPD1, GLA). A specialist consultation is mandatory for result interpretation.
4. How long does it take to get the results?
The turnaround time is 4 working days from the time the sample is received in the laboratory. Results are digitally signed by the supervising Consultant Medical Genetics and delivered securely via encrypted channels.
UAE Regulatory & Data Privacy Adherence
Core Compliance & Data Protection – This service is licensed under DHA Facility License Number 1143 and operated by DNA Labs UAE. All clinical data handling adheres strictly to 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. Patient consent protocols are governed by the principles of Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | Sphingolipidosis Panel 3 (Acid Sphingomyelinase, Glucocerebrosidase, Alpha-Galactosidase A) |
| Price (AED) | 900 AED |
| Turnaround Time | 4 working days |
| Sample Type / Matrix | Whole Blood (EDTA or Sodium Heparin) |
| Methodology Used | Fluorometric Enzyme Activity Assay with LC-MS/MS Confirmation |
| ICD-10-CM Code | E75.22 (Gaucher), E75.24 (Niemann-Pick), E75.21 (Fabry) |
| LOINC Code | 54089-8 |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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