Test Price
2,800 AED✅ Home Collection Available
GBA Gene Gaucher Disease Perinatal Lethal NGS Genetic Test in UAE – 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity for GBA mutations causing perinatal lethal Gaucher disease, processed under ISO 9001:2015 accredited protocols.
Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
Clinical Guidance: Complimentary telephonic post-test clinical interpretation by our genetic counselling partner.
Insurance: Direct billing verification – contact us via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This Next‑Generation Sequencing (NGS) test precisely identifies pathogenic variants in the GBA gene responsible for the severe, perinatal lethal form of Gaucher disease. Unlike enzymatic assays, our test reveals the exact genotype, enabling definitive diagnosis, accurate carrier detection, and informed reproductive decision‑making. The analysis is conducted on either whole blood in EDTA tubes, extracted DNA, or a single drop of blood on a Whatman FTA card, with cold‑chain transport ensuring sample integrity.
| Feature | Our NGS Test | Closest Alternative (Enzymatic Assay) |
|---|---|---|
| Precision | Full gene sequencing – identifies all coding mutations | Measures enzyme activity only; cannot detect carrier status or predict genotype |
| Methodology | Next‑Generation Sequencing (NGS) with bioinformatic verification | Fluorometric Beta‑Glucosidase assay |
| Turnaround Time | 3 – 4 Weeks | 1 – 2 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognise the profound emotional weight of genetic testing for a condition as severe as perinatal lethal Gaucher disease. This NGS‑based test provides clarity, yet interpretation must always be integrated with full clinical evaluation and expert genetic counselling. Please never hesitate to discuss your results with your specialist before any decision.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Individuals without a clinical indication or family history of Gaucher disease; neonates with life‑threatening conditions requiring immediate intensive care – testing must be deferred. Minors must have explicit parental consent in accordance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Red Flags: If the newborn develops severe hypotonia, respiratory distress, or intractable seizures, seek emergency paediatric care immediately. Genetic testing is not a substitute for acute intervention.
Patient FAQ & Clinical Guidance
1. What is the GBA Gene Gaucher disease perinatal lethal NGS test used for?
This test identifies disease-causing GBA gene mutations linked to fatal perinatal Gaucher disease for precise diagnosis. The analysis examines the entire coding region of the GBA gene using Next‑Generation Sequencing, which is essential for confirming the condition, distinguishing it from milder Gaucher phenotypes, and guiding reproductive planning or fetal risk assessment.
2. How long does it take to receive results, and what sample is required?
Results are delivered within 3 to 4 weeks using a blood sample or dried blood spot on FTA card. We accept whole blood in EDTA tubes, extracted DNA, or a single drop of blood on a Whatman FTA card – our home collection service ensures the sample is transported under cold‑chain conditions to maintain integrity.
3. Is this covered by insurance in the UAE?
Direct billing to major UAE insurers is available; WhatsApp +971 54 548 8731 for coverage verification before testing. Our billing team can confirm eligibility with your provider under the scope of UAE data privacy regulations and health information technology laws, ensuring a seamless and compliant claims process.
UAE Regulatory & Data Privacy Adherence
This test is performed 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 clinical data is processed securely, and patient consent adheres to the principles of Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory operations are conducted under ISO 9001:2015 certification (Cert. INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | GBA Gene Gaucher Disease Perinatal Lethal NGS Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Dried Blood Spot (FTA card), or Extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) with Bioinformatic Verification |
| ICD-10-CM Code | E75.22 (Perinatal lethal Gaucher disease) |
| LOINC Code | 21697-8 (GBA gene mutation analysis) |
| 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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ISMS 27001:2022
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