Test Price
2,800 AED✅ Home Collection Available
GBA Gene Gaucher Disease Type 3C Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 accredited processing and NGS full-gene coverage.
- ✓ 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 by DHA-licensed specialists for result interpretation.
- ✓ Insurance & Billing Verification: Direct coordination via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The GBA Gene Gaucher Disease Type 3C Genetic Test utilises Next Generation Sequencing (NGS) to empower clinicians with precise genotypic data, guiding enzyme replacement or substrate reduction therapies and long‑term surveillance for malignancy risk.
| Feature | Our Test (ISO 15189) | Closest Alternative (Standard Enzyme Assay) |
|---|---|---|
| Precision | Full gene sequencing with variant‑level resolution | Indirect activity measurement; cannot identify mutation type |
| Methodology | NGS (Next Generation Sequencing) | Fluorometric enzyme assay |
| Turnaround Time | 3–4 Weeks | 1–2 Weeks |
| Diagnostic Weight | Confirms carrier status, subtype classification, and prognostic markers | Only indicates deficient enzyme activity; inconclusive for carrier detection |
Physician Insight & Safety Protocols
Insight from Consultant Medical Genetics
“An NGS result for the GBA gene must never be interpreted in isolation. Clinical correlation with neurological examination, haematological parameters, and family pedigree is essential. A positive variant informs risk and guides therapy, but only a comprehensive specialist evaluation can determine the optimal care pathway. At DNA Labs UAE, we ensure that each report is reviewed by both a clinical geneticist and a biochemical specialist.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Safety Advisory: Medication Continuity
Do not discontinue prescribed enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) without consulting your treating specialist. Any modification must be supervised by your physician.
⛔ Exclusion Criteria & Emergency Red Flags
- Not indicated for asymptomatic minors without informed consent from a legal guardian.
- Patients with acute psychiatric instability or inability to understand genetic counselling implications.
- Any severe intercurrent infection requiring hospitalisation – postpone collection.
🚨 Urgent Red Flags (seek immediate medical help):
- Sudden severe bone pain or pathological fracture.
- New‑onset seizures or progressive neurological deterioration.
- Unexplained bleeding or easy bruising.
- Acute abdominal distension or severe fatigue.
Patient FAQ & Clinical Guidance
1. What is the GBA gene Gaucher disease type 3C NGS test?
This advanced genetic test sequences the entire GBA gene to identify mutations responsible for Gaucher disease type 3C, a chronic neuronopathic lysosomal storage disorder. It provides definitive molecular confirmation, differentiates it from other metabolic conditions, and helps forecast the disease course. The result enables targeted management, including enzyme replacement and regular monitoring for haematological and neurological complications.
2. How is the sample collected, and is home collection available?
Samples are collected via painless venipuncture (EDTA blood), extracted DNA, or a single drop on an FTA card. VIP home collection by licensed phlebotomists is available across all UAE emirates with ISO‑certified cold‑chain transport. Our home service operates daily from 8 AM to 11 PM, ensuring comfort and privacy. Once collected, the specimen is immediately preserved and transported under temperature‑controlled conditions to our DHA‑licensed molecular laboratory.
3. When will I receive results and what do they mean?
Results are delivered within 3 to 4 weeks and include a telephonic clinical guidance session with a DHA‑licensed specialist who explains variant pathogenicity and recommends follow‑up with a clinical geneticist or metabolic expert. The report will categorise identified variants as benign, likely benign, variant of uncertain significance, likely pathogenic, or pathogenic. A pathogenic finding confirms Gaucher disease type 3C, guiding immediate therapeutic decisions. Indeterminate results may require family segregation studies.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
All personal and health data processed during the GBA Genetic Test are handled in strict adherence 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. The laboratory operates under DHA Facility License Number 1143 and complies with Federal Decree-Law No. 4 of 2016 on Medical Liability for clinical safety and patient consent. Your information is encrypted, access‑controlled, and never shared without explicit consent.
Clinical & Logistical Metadata
| Test Name | GBA Gene Gaucher Disease Type 3C Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted DNA, or FTA card |
| Methodology Used | Next Generation Sequencing (NGS) – full GBA gene coverage |
| ICD-10-CM Code | E75.22 |
| LOINC Code | 61694-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians