Test Price
2,800 AED✅ Home Collection Available
GBA Gene Analysis for Gaucher Disease Type 2 (NGS) in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- 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 for result interpretation and next steps.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Pricing: 2,800 AED inclusive of genetic counseling support and sample logistics.
Test Overview & Methodology
Comprehensive Next‑Generation Sequencing (NGS) analysis of the entire GBA gene to confirm or rule out Gaucher disease type 2 with 99.9% diagnostic accuracy, essential for neonatal and early childhood metabolic disorder management. The assay detects single nucleotide variants, small insertions and deletions, and splice‑site mutations across all coding exons and flanking intronic regions.
| Feature | Our Test (GBA NGS) | Closest Alternative (Enzyme Assay) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (full‑gene coverage) | Spectrophotometric glucocerebrosidase activity |
| Diagnostic Precision | Identifies exact pathogenic mutations (99.9% sensitivity) | Indirect functional measurement; can miss carriers |
| Turnaround Time | 3 to 4 Weeks | 1 to 2 Weeks |
| Carrier Detection | Yes, direct sequence analysis | No, not reliable |
| Price | 2,800 AED | 1,500 – 2,200 AED (estimated) |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I recognize the profound emotional weight families carry when considering genetic testing for a severe neurodegenerative disorder such as Gaucher disease type 2. A definitive molecular diagnosis provides invaluable clarity, enabling timely supportive care and informed reproductive choices. These results must always be interpreted within the framework of a comprehensive genetic counseling session."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Pre-Test Genetic Counseling Mandate
Under Federal Decree-Law No. 4 of 2016 on Medical Liability, all patients must receive documented pre- and post-test genetic counseling from a DHA-licensed geneticist or metabolic specialist. A three-generation pedigree chart and signed informed consent are compulsory before sample collection. For minors, explicit parental consent and court-approved counseling documentation are required.
Do not discontinue or adjust any prescribed medication without direct consultation with your treating doctor.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inconclusive NGS results must not be used as the sole basis for clinical decisions; confirmatory biochemical testing may be required. This test is not a substitute for comprehensive metabolic evaluation.
- Emergency Red Flags: If the patient experiences rapid neurological decline, uncontrollable seizures, severe respiratory distress, or hepatosplenomegaly with pain, seek immediate emergency medical attention.
Patient FAQ & Clinical Guidance
1. What is the GBA gene NGS test for Gaucher disease type 2?
This test sequences the entire GBA gene to identify pathogenic variants causing Gaucher disease type 2, a severe neurodegenerative form. The analysis detects both known and novel mutations, providing definitive molecular confirmation. It is the most accurate method for diagnosing Gaucher disease in symptomatic individuals, identifying carriers within families, and guiding future reproductive decisions.
2. How is the sample collected and what is the turnaround time?
A blood draw or DNA extraction is performed, and results are delivered in 3 to 4 weeks. Accepted sample types include whole blood, extracted DNA, or a single drop of blood on an FTA card. Our VIP Mobile Phlebotomy team adheres to temperature-controlled cold-chain protocols to preserve sample integrity, with appointments available daily from 8 AM to 11 PM.
3. Does UAE law require genetic counseling for this test?
Yes, Federal Decree-Law No. 4 of 2016 on Medical Liability mandates pre- and post-test genetic counseling for all genetic tests. The counseling must be conducted by a DHA-licensed geneticist or metabolic specialist, and a signed informed consent along with a detailed pedigree chart is compulsory. Post-counseling is equally essential to interpret results and plan management.
UAE Regulatory & Data Privacy Adherence
Your genetic data is processed 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 sequencing and analysis are performed within ISO 9001:2015 certified facilities. Your data is encrypted, access-controlled, and never shared with third parties without explicit written consent.
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres to all applicable federal and emirate-level health data governance standards.
Clinical & Logistical Metadata
| Test Name | GBA Gene Analysis for Gaucher Disease Type 2 (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Full GBA Gene Coverage |
| ICD-10-CM Code | E75.22 |
| LOINC Code | 48018-6 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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