Test Price
2,800 AED✅ Home Collection Available
SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- • Diagnostic Sensitivity: 99.9% achieved through ISO-compliant processing and validated NGS methodology.
- • Premium Logistics: ISO-certified home phlebotomy with temperature-controlled cold-chain transport; VIP mobile service daily 8 AM – 11 PM.
- • Post-Test Support: Complimentary phone consultation with a consultant medical geneticist to review results and guide next steps.
- • Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyses all coding exons and splice sites of the SCNN1A gene to diagnose autosomal recessive pseudohypoaldosteronism type 1 (PHA1), a rare salt-wasting disorder presenting in infancy. Conducted in our DHA-licensed Dubai Healthcare City laboratory, the assay delivers results within 21–28 working days with 99.9% diagnostic sensitivity, supporting precise clinical management and family planning decisions.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – full gene coverage | Sanger sequencing – limited to selected exons |
| Diagnostic Sensitivity | 99.9% | ~95% |
| Turnaround Time | 21–28 working days | 4–6 weeks |
| Copy Number Variants | Detected | Not detected |
| Price (AED) | 2,800 | 2,200–2,500 |
Physician Insight & Safety Protocols
"As a clinical geneticist, I recognize the emotional weight that accompanies genetic testing for a rare, life-altering condition. The SCNN1A NGS test provides critical diagnostic clarity, yet results must always be interpreted alongside the full clinical picture and biochemical data. I strongly advise families to review findings only with a specialist who can tailor salt supplementation and fludrocortisone therapy appropriately."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Clinical Guidance
- • This test is not intended for emergency diagnosis; a suspected salt-wasting crisis requires immediate hospital admission, not genetic testing.
- • Patients with active severe dehydration, hypotension, or cardiac arrhythmia should seek emergency care before arranging the test.
- • Sample collection must be performed by a licensed phlebotomist using aseptic technique; hemolyzed or clotted samples will be rejected and recollection requested.
- • The test requires informed consent and, whenever possible, a pre-test genetic counselling session to construct a pedigree.
Exclusion Criteria & Medication Safety
⚠ Important: Do not discontinue prescribed medications (e.g., salt supplements, fludrocortisone) without consulting your doctor. Sudden cessation can precipitate a life-threatening salt-wasting crisis. This test is contraindicated for patients who are unable to provide a valid blood sample (e.g., severe anemia, clotting disorders) or who have undergone a recent blood transfusion (within 90 days) that may interfere with DNA analysis.
Patient FAQ & Clinical Guidance
1. What is the SCNN1A genetic test, and who needs it?
This genetic test detects mutations in the SCNN1A gene linked to pseudohypoaldosteronism type 1 for patients with salt-wasting symptoms. It is indicated for infants and children presenting with hyponatremia, hyperkalemia, and metabolic acidosis, as well as for carrier screening in families with a known mutation. The assay analyses all coding exons and adjacent intronic regions, providing a comprehensive molecular diagnosis that guides personalized salt supplementation and fludrocortisone therapy.
2. How is the sample collected, and is home collection available?
We provide ISO-certified home blood collection by a licensed phlebotomist, with samples transported under strict cold-chain conditions. A small volume of whole blood (3–5 mL in EDTA tube) or a dried blood spot on an FTA card is acceptable. Our VIP mobile phlebotomy service operates daily from 8 AM to 11 PM across all Emirates. Once collected, the sample is couriered to our central laboratory in temperature-controlled packaging, preserving DNA integrity and ensuring reliable sequencing results.
3. What does a positive or negative result mean for my health?
A positive result confirms autosomal recessive PHA1, guiding salt supplementation and fludrocortisone therapy, while a negative result reduces likelihood but does not absolutely exclude the condition. Homozygous or compound heterozygous pathogenic variants confirm the diagnosis and mandate lifelong management. A negative report does not exclude deep intronic or copy-number variants; clinical correlation remains essential. Genetic counselling is recommended after every result to explain inheritance risks and reproductive options.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed in full compliance with the United Arab Emirates legal framework governing medical data and patient privacy:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring secure collection, storage, and transfer of your genetic and clinical information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing the electronic handling of health records and telemedicine interactions.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing accountability for clinical procedures and requiring informed consent before any diagnostic intervention.
Your sample and data are processed under strict confidentiality protocols. For any privacy-related concerns, contact our Data Protection Officer at dpo@dnalabsuae.com.
Clinical & Logistical Metadata
| Test Name | SCNN1A Gene Sequencing (NGS) – Pseudohypoaldosteronism Type 1 |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 working days |
| Sample Type / Matrix | Whole blood (EDTA tube) or dried blood spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) – full coding exon and splice site analysis |
| ICD-10-CM Code | E27.40 |
| LOINC Code | 83275-3 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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