Test Price
2,800 AED✅ Home Collection Available
SCNN1G Gene Pseudohypoaldosteronism Type 1 (Autosomal Recessive) Genetic Test in UAE
Executive Summary & Core Metrics
Clinical-Grade Accuracy & UAE-Compliant Care
- Precision: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance on result interpretation by DHA-licensed physicians.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SCNN1G gene test identifies pathogenic variants causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1), a severe neonatal salt-wasting disorder that can lead to life-threatening hyperkalemia and hyponatremia. This molecular analysis detects mutations in the epithelial sodium channel gamma subunit, enabling early diagnosis, targeted therapy, and informed genetic counselling for affected families. The test uses next-generation sequencing to interrogate the entire coding region and splice sites, supplemented by deletion/duplication analysis for comprehensive variant detection.
| Feature | Our Test (DHA-Approved) | Closest Alternative |
|---|---|---|
| Precision | NGS with >99.9% analytic sensitivity | Sanger sequencing (limited to single exon) |
| Method | Full gene NGS + deletion/duplication analysis | Targeted mutation panel only |
| Speed | 3–4 Weeks (premium cold-chain collection) | 4–6 Weeks (standard lab) |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasize that a positive SCNN1G result confirms autosomal recessive PHA1, but clinical correlation with electrolyte levels and blood pressure is essential for management. This test does not replace acute neonatal care for hyperkalemia; immediate medical intervention remains critical for affected infants. Genetic counselling should be offered to all family members at risk.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medications (fludrocortisone, sodium supplements, potassium binders) without consulting your doctor. Abrupt cessation can provoke fatal arrhythmias or hypovolemic shock. Always coordinate medication adjustments with the managing paediatric nephrologist or endocrinologist.
Exclusion Criteria & Emergency Red Flags
- Exclusion for Home Collection: Patient currently admitted to NICU/PICU; unstable vital signs; severe hyperkalemia (>7.0 mmol/L) requiring immediate dialysis.
- ER Red Flags: Cardiac arrhythmia, muscle paralysis, respiratory distress, or altered consciousness in an infant with known or suspected PHA1 – call 998 immediately.
- Specimen Adequacy: If DNA extraction fails from blood or FTA card, a recollection will be arranged at no extra logistics cost.
Patient FAQ & Clinical Guidance
1. What does a positive SCNN1G genetic test mean for my child?
A positive result confirms autosomal recessive pseudohypoaldosteronism type 1, a condition that impairs the body's ability to retain salt and excrete potassium. This requires lifelong sodium supplementation, regular electrolyte monitoring, and coordinated care with a paediatric nephrologist or endocrinologist.
2. Why does the test take 3–4 weeks when other labs offer faster results?
Our comprehensive NGS protocol includes full gene sequencing, copy number variant analysis, and dual-independent variant interpretation aligned with DHA guidelines. This rigorous process ensures zero preventable false-negative results, which is critical for accurate genetic diagnosis and family counselling.
3. Is home collection safe for my baby, and how is the sample handled?
Yes. Our DHA-licensed paediatric phlebotomists use a single-use heel-stick device or venipuncture with cold-chain transport, maintaining sample integrity from home to ISO 9001:2015 laboratory accession. The temperature-controlled courier ensures DNA stability throughout transit, and all collection materials are sterile and disposable.
4. Will I receive genetic counselling before and after the test?
Yes. Pre-test genetic counselling is mandatory to construct a pedigree chart and discuss implications of carrier status or affected results. Post-test counselling includes a detailed explanation of findings, recurrence risk assessment, and management recommendations tailored to your family.
UAE Regulatory & Data Privacy Adherence
- Licensed by Dubai Health Authority (DHA) under Facility License Number 1143.
- Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for handling patient genetic and clinical information.
- Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure electronic health data management.
- Clinical testing safety and patient consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accredited to ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) ensuring international quality management standards.
Clinical & Logistical Metadata
| Test Name | SCNN1G Gene Pseudohypoaldosteronism Type 1 (Autosomal Recessive) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card (one drop) |
| Methodology Used | Next-Generation Sequencing (NGS) with deletion/duplication analysis |
| ICD-10-CM Code | E27.4 |
| LOINC Code | 92834-4 |
| DHA Facility License & Laboratory Address Invariants | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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