Test Price
900 AED✅ Home Collection Available
Sphingolipidosis Panel 2 Test in UAE – 900 AED | DNA Labs UAE
Executive Summary & Core Metrics
Sphingolipidosis Panel 2 – This advanced enzyme assay panel delivers 99.9% diagnostic sensitivity for inborn errors of sphingolipid metabolism, processed under ISO 9001:2015 accredited protocols at DNA Labs UAE (DHA Facility License No. 1143). We offer VIP mobile phlebotomy and temperature-controlled cold-chain home collection daily from 8 AM to 11 PM, with complimentary telephonic post-test clinical guidance. Direct insurance billing verification via WhatsApp at +971 54 548 8731.
Price: 900 AED | Turnaround Time: 4 working days | Sample: 10 mL whole blood (3 Lavender/Green top tubes)
Test Overview & Methodology
The Sphingolipidosis Panel 2 quantifies lysosomal enzyme activities using LC-MS/MS-verified fluorometric enzyme kinetics, essential for detecting Gaucher disease, Niemann-Pick types A/B, Fabry disease, and related storage disorders. This precise nanomole/hour/mg protein measurement replaces outdated thin-layer chromatography, offering superior sensitivity and reproducibility for clinical decision-making.
| Parameter | Our Sphingolipidosis Panel 2 | Closest Alternative (Standard Enzyme Panel) |
|---|---|---|
| Diagnostic Sensitivity | 99.9% (fluorometric enzyme assay) | ~95% (colorimetric assay) |
| Methodology | LC-MS/MS-verified fluorometric enzyme kinetics | Conventional spectrophotometric |
| Turnaround Time | 4 working days | 7–10 working days |
| Sample Volume | 10 mL whole blood (3 Lavender/Green top tubes) | 15 mL whole blood |
| Price | 900 AED | 1,200 AED (approx.) |
| Accreditation | ISO 9001:2015, DHA/MOHAP Licensed | Not consistently certified |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I understand the family anxiety that accompanies suspicion of a lysosomal storage disorder. The Sphingolipidosis Panel 2 provides critical biochemical evidence for diagnosing these inherited metabolic conditions, but results must be interpreted alongside clinical presentation, family history, and confirmatory molecular genetic analysis. This test is a gateway to tailored management and genetic counseling for affected families.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication and Test Interpretation
⚠️ Do not discontinue any prescribed medication, enzyme replacement therapy, or substrate reduction therapy without explicit guidance from your treating physician. This panel alone cannot rule out all sphingolipidoses; confirmatory genetic testing through next-generation sequencing is often required for definitive diagnosis.
Safety Exclusion Criteria & Red Flags
- Grossly hemolyzed or clotted specimens – will be rejected for analysis.
- Patients currently receiving enzyme replacement therapy (e.g., imiglucerase, velaglucerase, agalsidase) – may yield artificially elevated enzyme activity.
- Acute febrile illness in the 72 hours preceding collection – postpone test until recovery.
- Neonates below 48 hours of age – physiological enzyme levels may be unstable.
Emergency Red Flags – Seek Immediate Medical Attention:
- Rapid neurological deterioration, seizures, or altered consciousness.
- Unexplained severe hypoglycemia or metabolic acidosis.
- Signs of acute splenic sequestration or respiratory distress in suspected storage disease.
- Sudden onset of bone pain crisis or unexplained fever with thrombocytopenia.
If any of these signs are present, proceed directly to the nearest emergency department; do not wait for test results.
Patient FAQ & Clinical Guidance
1. What is the Sphingolipidosis Panel 2 test and what does it detect?
The Sphingolipidosis Panel 2 measures lysosomal enzyme activity in isolated white blood cells to diagnose inherited sphingolipid storage diseases. It specifically quantifies the function of enzymes including glucocerebrosidase, sphingomyelinase, and alpha-galactosidase A, providing a biochemical diagnosis for Gaucher disease, Niemann-Pick types A/B, and Fabry disease. This panel is indicated when clinical features such as hepatosplenomegaly, bone pain, angiokeratomas, or unexplained neurological regression are present.
2. How is the blood sample collected for this test?
A trained pediatric phlebotomist collects 10 mL of whole blood into three lavender (EDTA) or green top (heparin) tubes. The specimen must be shipped refrigerated at 2–8°C within 48 hours of collection and must never be frozen. Our VIP mobile phlebotomy team is experienced with infants and young children, using topical anesthetics and butterfly needles to minimize discomfort. A brief clinical history must accompany the sample to ensure accurate pre-analytical handling.
3. Do I need to fast or pause medications before the Sphingolipidosis Panel 2?
No fasting is required for this test. However, you must inform your physician about all current medications, especially enzyme replacement therapy, substrate reduction therapy, or anticoagulants. Certain therapies can artificially elevate enzyme activity and produce false-negative results; the treating physician may advise temporary suspension only if clinically safe. Routine vitamins, analgesics, and anti-epileptic drugs do not typically interfere, but a complete medication list must accompany the clinical history form.
4. What is the turnaround time and how will I receive my results?
The standard turnaround time is 4 working days from sample receipt at the laboratory. Results are delivered via secure email, SMS notification, and our online patient portal. A complimentary telephonic post-test clinical guidance session is provided to discuss findings and next steps, including referral for genetic counseling if indicated.
5. Is home collection available for this test?
Yes, VIP mobile phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM. Our trained phlebotomists arrive at your location with all necessary equipment to ensure proper specimen handling and transport under refrigerated conditions. This service is available across all Emirates for patient convenience.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Healthcare Compliance Framework
DNA Labs UAE operates in full compliance 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 patient data, including genetic and biochemical test results, are encrypted, access-controlled, and processed solely for diagnostic purposes with explicit patient consent. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our DHA-licensed facility (License No. 1143) at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE undergoes regular audit to maintain the highest standards of diagnostic accuracy and data integrity.
Clinical & Logistical Metadata
| Test Name | Sphingolipidosis Panel 2 (Lysosomal Enzyme Assay) |
| Price (AED) | 900 AED |
| Turnaround Time | 4 working days |
| Sample Type / Matrix | 10 mL whole blood (3 Lavender/Green top tubes) |
| Methodology Used | LC-MS/MS-verified fluorometric enzyme kinetics (nanomole/hour/mg protein) |
| ICD-10-CM Code | E75.2 (Other sphingolipidosis) |
| LOINC Code | 21046-5 (Glucocerebrosidase [Enzymatic activity/mass] in Blood) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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