Test Price
2,800 AED✅ Home Collection Available
SARS2 Gene Sequencing Test for HUPRA Syndrome (Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis) in UAE
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity – ISO‑accredited next‑generation sequencing (NGS) for the SARS2 gene, ensuring reliable identification of HUPRA syndrome variants. This test provides definitive molecular confirmation for affected individuals and enables comprehensive carrier screening within families.
- ✓Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM. Full traceability and ISO‑certified specimen handling.
- ✓Clinical Guidance: Post‑test telephonic consultation with our senior clinical team to interpret results and coordinate specialist referral.
- ✓Direct Billing Verification: WhatsApp +971 54 548 8731
Test Overview & Methodology
The SARS2 gene encodes the mitochondrial seryl‑tRNA synthetase enzyme; pathogenic mutations in this gene cause the rare autosomal recessive disorder known as HUPRA syndrome (hyperuricemia, pulmonary hypertension, renal failure, and alkalosis). This comprehensive genetic test employs next‑generation sequencing (NGS) to analyse the entire coding region and all canonical splice sites, delivering high‑resolution detection of single‑nucleotide variants, small insertions, and deletions. Clinical validation and variant interpretation follow ACMG/AMP guidelines.
| Feature | Our Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Method | NGS – full gene analysis (coding + splice sites) | Targeted Sanger of individual exons |
| Diagnostic Sensitivity | >99.9% | ~95% per exon; may miss deep intronic variants |
| Turnaround Time | 3–4 weeks | 6–8 weeks (if batched) |
| Sample Type | Whole blood (3 mL EDTA), extracted DNA, or FTA card | Whole blood only |
| Clinical Depth | Full variant interpretation with ACMG classification | Limited to known hotspots |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specialist, I emphasise that this SARS2 NGS analysis offers exceptional diagnostic precision for HUPRA syndrome. However, the result must always be correlated with the full clinical picture, including detailed family history and biochemical findings. This test is a powerful diagnostic aid, not a substitute for comprehensive clinical evaluation. Patients and families should continue all prescribed therapies unless their treating physician advises otherwise."
– Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory – Medication & Clinical Safety
Do not discontinue prescribed medication without consulting your doctor.
- All current treatments for hyperuricemia, pulmonary hypertension, or renal management must be maintained unless your specialist explicitly adjusts the regimen based on genetic results.
- A formal genetic counselling session is mandatory before testing to document a three‑generation pedigree and obtain informed consent.
- Minors require explicit parental or guardian consent accompanied by a genetic counselling report, in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Exclusion Criteria & Red Flags
- Exclusion: No absolute biological contraindications exist as long as a viable sample (blood, DNA, or FTA card) can be obtained. However, individuals who have not completed pre‑test genetic counselling will not be processed.
- Emergency Red Flags: Sudden worsening of dyspnoea, chest pain, severe lethargy, or vomiting may indicate acute decompensation of pulmonary hypertension or metabolic crisis – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the SARS2 gene test and why is it important?
The SARS2 gene NGS test identifies pathogenic genetic variants responsible for HUPRA syndrome, a rare multisystem disorder characterised by hyperuricemia, pulmonary hypertension, renal failure, and metabolic alkalosis. Early molecular diagnosis enables targeted management, family cascade screening, and informed reproductive planning.
2. Do I need a medical referral to take this test?
Direct patient testing is accepted provided a detailed clinical history and formal genetic counselling session are completed. Referral from a nephrologist, pulmonologist, or clinical geneticist is strongly recommended to ensure appropriate pre‑test evaluation and post‑test follow‑up.
3. How long do results take and what do they mean?
The turnaround time is 3–4 weeks from sample receipt. Results are interpreted by board‑certified molecular geneticists using ACMG/AMP guidelines and reported as pathogenic, likely pathogenic, or variant of uncertain significance. A secure digital report is issued, and our telehealth team provides a detailed walk‑through within 48 hours of report availability.
4. What are the pre‑test requirements?
You must provide a documented clinical history of hyperuricemia, pulmonary hypertension, renal failure, or alkalosis, and attend a genetic counselling session to construct a three‑generation pedigree chart. No dietary or medication restrictions are needed; continue all prescribed treatments. Sample types accepted: whole blood (3 mL EDTA), extracted DNA, or one drop on an FTA card.
UAE Regulatory & Data Privacy Adherence
This test operates 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 genetic data is processed under strict confidentiality protocols, with encrypted storage and access controls aligned to international privacy standards. Clinical safety and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory operates under ISO 9001:2015 certified quality management (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | SARS2 Gene Sequencing Test for HUPRA Syndrome (Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (3 mL EDTA), extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) – full coding region and splice sites |
| ICD-10-CM Code | Z15.89, E79.0, I27.0 |
| LOINC Code | 101264‑6 – SARS2 gene full sequence analysis |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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