Test Price
2,800 AED✅ Home Collection Available
SCNN1B Gene Pseudohypoaldosteronism Type 1 Genetic Test in UAE | AED 2,800 | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited next-generation sequencing (NGS) processing.
- 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 result interpretation by a consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Regulatory Standing: Full compliance with UAE 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.
Test Overview & Methodology
This next-generation sequencing (NGS) test identifies pathogenic variants in the SCNN1B gene, which causes autosomal recessive pseudohypoaldosteronism type 1 (PHA1). PHA1 is a severe salt-wasting disorder that presents in infancy with failure to thrive, hyponatremia, hyperkalemia, and metabolic acidosis despite markedly elevated aldosterone levels. Definitive molecular diagnosis guides lifelong sodium supplementation, potassium management, and regular monitoring to prevent life-threatening electrolyte crises. The assay provides full gene coverage including exonic regions, intronic boundaries, and detection of large deletions or duplications.
| Feature | Our Test (SCNN1B NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; full gene coverage including large deletions and duplications | Approximately 95% sensitivity; may miss copy-number variations |
| Methodology | NGS with clinically validated bioinformatics pipeline | Capillary sequencing (Sanger), limited to known exons only |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
Physician Insight & Safety Protocols
Medication Advisory
Medication Notice
Do not discontinue prescribed medications such as fludrocortisone, sodium chloride supplements, or potassium-lowering agents without consulting your treating physician. Abrupt cessation can precipitate severe electrolyte imbalance requiring emergency intervention.
Safety Exclusion & Emergency Red Flags
Safety Exclusion & Emergency Red Flags
- Home Collection Exclusion Criteria: Active fever exceeding 38.5°C, haemodynamic instability, inability to provide informed consent, or patient currently requiring acute resuscitation.
- Emergency Red Flags: Sudden severe dehydration, intractable vomiting, profound lethargy, cardiac arrhythmia, or altered consciousness — seek immediate emergency care. This test is not designed for acute crisis management.
Patient FAQ & Clinical Guidance
1. What is the SCNN1B gene and why is this test performed?
The SCNN1B gene encodes a critical sodium channel subunit expressed in the renal collecting duct. Pathogenic mutations cause autosomal recessive pseudohypoaldosteronism type 1, a life-threatening salt-wasting disease characterized by neonatal onset of hyponatremia, hyperkalemia, and metabolic acidosis despite high aldosterone levels. Genetic confirmation directs lifelong sodium supplementation, potassium surveillance, and multidisciplinary follow-up to prevent crisis episodes.
2. How is the sample collected and what sample types are accepted?
A DHA-licensed phlebotomist performs a painless home visit to collect whole blood in EDTA tubes, extracted DNA, or a capillary blood drop on an FTA card. The specimen is transported under temperature-controlled cold-chain conditions directly to our ISO 9001:2015 accredited laboratory. No special preparation or fasting is required.
3. When will I receive my results and what do they mean?
Results are delivered within 3–4 weeks from sample receipt. A positive report identifies the specific SCNN1B mutation(s) and confirms the diagnosis of pseudohypoaldosteronism type 1, enabling immediate sodium replacement therapy and specialist follow-up. A negative result reduces the likelihood of this specific genetic cause but does not exclude other forms of aldosterone resistance; further biochemical and clinical correlation is recommended.
UAE Regulatory & Data Privacy Adherence
This test and all associated data handling procedures comply 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. Patient consent is obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data are encrypted, stored within UAE-based servers, and never shared with third parties without explicit written authorization. DNA Labs UAE holds DHA Facility License number 1143 and operates under the regulatory oversight of the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | SCNN1B Gene Pseudohypoaldosteronism Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or capillary blood on FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene coverage including exon, intronic boundaries, and CNV detection |
| ICD-10-CM Code | E26.8 |
| LOINC Code | 83096-1 |
| DHA Facility License & Laboratory Address | License No: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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