Test Price
2,800 AED✅ Home Collection Available
GBA Gene Gaucher Disease Type 1 Genetic Test (NGS) in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited sequencing and bioinformatics pipeline.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection (available daily 8 AM – 11 PM).
- Clinical Guidance: Complimentary telephonic post-test clinical interpretation with a DHA-certified Consultant Medical Geneticist (Lina Osama Zaki Quteineh, DHA ID 9294403).
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The GBA gene test uses Next‑Generation Sequencing to detect all pathogenic variants in the glucocerebrosidase gene, definitively confirming Gaucher disease type 1. This molecular diagnosis enables targeted enzyme replacement therapy and personalized long‑term monitoring.
Why Our NGS Test vs. Enzyme Assay?
| Feature | Our Test (NGS) | Enzyme Activity Assay |
|---|---|---|
| Precision | 99.9% detection of disease‑causing mutations | ~95% sensitivity; may miss mild variants |
| Methodology | Next‑Generation Sequencing (full gene coverage) | Fluorometric enzyme assay (glucocerebrosidase) |
| Turnaround Time | 3 – 4 Weeks | 1 – 2 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I understand the importance of precise molecular confirmation for Gaucher disease type 1. This NGS assay provides comprehensive coverage of the GBA gene, but results must always be correlated with glucocerebrosidase enzyme activity, clinical presentation, and family history. Genetic testing is a powerful tool, but it does not replace a thorough clinical evaluation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Advisory: Medication & Emergency Guidance
Medication Safety
Do not discontinue prescribed medication, including enzyme replacement therapy (ERT), without consulting your doctor.
Emergency Red Flags
- Sudden, severe bone pain (“bone crisis”) or pathological fractures.
- Acute abdominal distension or splenic sequestration.
- New‑onset neurological changes (seizures, abnormal eye movements) – may indicate evolving neuronopathic disease.
If you experience any of these symptoms, seek emergency medical attention immediately. This test does not replace urgent clinical evaluation.
Exclusion Criteria
- Active severe infection or recent blood transfusion (within 7 days) that may compromise DNA quality.
- Inability to provide informed consent; prenatal testing requires specialised genetic counselling per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the GBA gene test for Gaucher disease type 1?
The GBA gene NGS test identifies pathogenic mutations in the glucocerebrosidase gene causing Gaucher disease type 1. It sequences all coding regions and splice sites, detecting even rare variants. A positive result confirms the diagnosis, while a negative result may prompt evaluation for other lipidoses.
2. How do I prepare for the test?
No special preparation is required; simply provide a blood sample or DNA on FTA card and continue all prescribed medications. A pre‑genetic counselling session is advised to draw a detailed family pedigree. Fasting is unnecessary, but please inform our nurse of any bleeding disorders or anticoagulant use.
3. How long do results take and how will I receive them?
Results are reported within 3 to 4 weeks and delivered via a secure patient portal plus a telephone clinical consultation. A DHA‑licensed Consultant Medical Geneticist (Ms. Lina Osama Zaki Quteineh) will explain the findings, recommended next steps, and any need for family screening. The report includes ICD‑10‑CM codes and LOINC identifiers for seamless integration into your medical record.
UAE Regulatory & Data Privacy Adherence
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – All genetic data encrypted and stored onshore with restricted access.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Secure electronic health record integration.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability – Informed consent and genetic counselling mandates strictly followed.
- ISO 9001:2015 Certified Facility (Cert: INT/EGQ/2509DA/3139).
- DHA Facility License No. 1143, regulated by Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | GBA Gene Gaucher Disease Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Peripheral Blood (or Buccal Swab as alternative) |
| Methodology Used | Next‑Generation Sequencing (NGS) – full gene coverage |
| ICD-10-CM Code | E75.22 |
| LOINC Code | 21668-1 |
| 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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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians