Test Price
3,000 AED✅ Home Collection Available
Sphingolipidosis Enzyme Panel (Genetic Test) in UAE | 3000 AED
Executive Summary & Core Metrics
- Accuracy: >99.9% diagnostic sensitivity via ISO-accredited workflow.
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily 8 AM to 11 PM).
- Clinical Guidance: Post-test telephonic consultation with a board-certified genetic counselor.
- Insurance: Direct coverage verification & billing via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The Sphingolipidosis Enzyme Panel is a comprehensive next-generation sequencing (NGS) genetic test that detects pathogenic variants in genes responsible for sphingolipid storage diseases such as Gaucher, Niemann-Pick, and Fabry disease. By analyzing the entire coding region of clinically relevant genes, this panel delivers a molecular diagnosis with unparalleled precision, enabling early intervention and personalized management for affected families in the UAE.
| Feature | Our Test (NGS Panel) | Traditional Enzyme Assay |
|---|---|---|
| Precision | >99.9% diagnostic sensitivity for targeted genes | ~70–85% sensitivity, often misses mild or borderline cases |
| Methodology | NGS with full gene sequencing & copy number variant detection | Fluorometric or spectrophotometric enzyme activity |
| Turnaround Time | 21–28 Days (comprehensive report) | 5–10 Days (activity only, no mutation data) |
Physician Insight & Safety Protocols
"This NGS panel is a cornerstone for diagnosing sphingolipidosis in families with unexplained neurological or visceral manifestations. It detects mutations that enzyme assays often overlook, enabling targeted therapies and informed reproductive choices. Always integrate genetic findings with clinical and biochemical data for a complete diagnostic picture."
⚠ Medication Advisory
Do not discontinue or alter any prescribed therapy (e.g., miglustat, enzyme replacement, pain management) without explicit guidance from your treating physician. This genetic test informs clinical decisions but must not replace ongoing medical regimens without supervision.
Exclusion Criteria & Emergency Red Flags
- Exclusions: Acute febrile illness, inability to provide a whole blood or FTA card sample, lack of signed informed consent or mandatory pre-test genetic counseling.
- Seek Immediate ER Care If: Sudden severe neurological decline, loss of consciousness, acute respiratory distress, or signs of metabolic decompensation (vomiting, lethargy, hypoglycemia).
Patient FAQ & Clinical Guidance
1. What does the Sphingolipidosis Enzyme Panel test for?
It sequences the full coding regions of genes linked to sphingolipid storage disorders (e.g., GBA, SMPD1, GLA) to detect disease-causing mutations, including point mutations, small indels, and large deletions/duplications. Results provide a definitive molecular diagnosis, carrier status, and guidance for reproductive planning. The test requires a small blood sample or dried blood spot, and results are interpreted by board-certified clinical geneticists.
2. How should I prepare for this genetic test?
Attend a mandatory pre-test genetic counseling session and provide a detailed family pedigree. No fasting is needed, but you should be in good health without acute infection. Bring relevant medical records and a current medication list. A whole blood or FTA card sample will be collected via VIP mobile phlebotomy or at a designated facility.
3. What do my results mean and how will they be delivered?
A positive finding confirms a specific sphingolipidosis and enables access to approved therapies and clinical trials. Your secure report includes gene, variant classification, zygosity, and clinical interpretation. You will receive a telephonic consultation to explain results in plain language, and your referring physician will receive a full actionable summary. For negative or uncertain findings, genetic counseling will discuss next steps such as whole exome sequencing.
UAE Regulatory & Data Privacy Adherence
This service operates under DHA Facility License No. 1143 and adheres 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. All genetic data remains securely stored on UAE-based servers. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | Sphingolipidosis Enzyme Panel (Genetic Test) |
| Price (AED) | 3,000 AED |
| Turnaround Time | 21–28 Days |
| Sample Type / Matrix | Whole blood (EDTA) or dried blood spot (FTA card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene sequencing and copy number variant detection |
| ICD-10-CM Code | E75.2, Z13.228, Z84.81 |
| LOINC Code | 103213-3 |
| DHA Facility License & Laboratory Address | License No. 1143 • Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE • DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians