Test Price
2,800 AED✅ Home Collection Available
NPHP1 Gene (Nephronophthisis Type 1) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited NGS processing with confirmatory Sanger sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary telephonic post‑test clinical interpretation session with a genetic counsellor.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This NGS‑based genetic test reads the entire coding sequence of the NPHP1 gene to identify DNA variants responsible for nephronophthisis type 1, an inherited cystic kidney disease that often leads to end‑stage renal failure in childhood.
| Feature | Our NPHP1 NGS Test | Standard Single‑Gene Sanger Sequencing |
|---|---|---|
| Precision | Full gene coverage (exons, intron‑exon boundaries, CNV detection) | Limited to pre‑selected coding regions; may miss deep intronic or CNV variants |
| Methodology | NGS (Illumina platform) + orthogonal Sanger confirmation | Sanger sequencing (targeted PCR amplification) |
| Turnaround Time | 3–4 weeks | 4–6 weeks (due to iterative primer design) |
| Diagnostic Yield | ~95% for NPHP1‑related phenotype (including deletions) | ~80% (misses large deletions unless MLPA added separately) |
| Cost (UAE) | 2800 AED | 3200–3500 AED (if MLPA added) |
Physician Insight & Safety Protocols
“This test provides critical diagnostic clarity, but I always remind families that a genetic result must be integrated with ultrasound, kidney function tests, and clinical history. A variant of uncertain significance does not confirm disease; genetic counselling before and after testing is essential to understand the implications for the child and extended family.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication & Clinical Caution
Medication Warning: Do not discontinue or adjust any prescribed medication (antihypertensives, diuretics, immunosuppressants) without consulting your treating physician. This test does not replace ongoing nephrology follow‑up.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active febrile illness or blood transfusion within the last 2 weeks – may interfere with DNA quality. Postpone collection until medically stable.
- Exclusion: Unsupervised minors without legal guardian consent as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flags: Sudden drop in urine output (oliguria/anuria), hypertensive crisis (BP ≥ 180/120 mmHg), severe electrolyte disturbance – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the NPHP1 NGS test, and why is it ordered?
The NPHP1 NGS test sequences the entire NPHP1 gene to detect pathogenic variants causing nephronophthisis type 1, a progressive childhood kidney disease. It is requested when a child presents with polyuria, polydipsia, anemia, growth retardation, or renal ultrasound showing small, hyperechoic kidneys with loss of corticomedullary differentiation. It also confirms carrier status in family members.
2. How do I prepare for the test, and what sample is needed?
You must attend a genetic counselling session to draw a pedigree chart before providing a blood sample, extracted DNA, or a single drop on an FTA card. Fasting is not required. The phlebotomist collects 2‑5 mL of whole blood in an EDTA tube. A dedicated cold‑chain courier transports the sample to the laboratory within 4 hours to maintain DNA integrity.
3. When will I receive my results, and how are they explained?
The report is issued within 3–4 weeks and includes a plain‑language interpretation along with a telephonic clinical guidance session by a genetics professional. Results categorise variants as pathogenic, likely pathogenic, uncertain significance (VUS), likely benign, or benign. A face‑to‑face or telehealth follow‑up with your nephrologist is strongly recommended to integrate the genetic finding with your clinical picture.
UAE Regulatory & Data Privacy Adherence
This service is fully compliant with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – ensuring secure electronic health information exchange.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – covering patient safety, consent, and clinical accountability.
Accredited under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | NPHP1 Gene (Nephronophthisis Type 1) Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted DNA, or FTA card; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (Illumina platform) with confirmatory Sanger sequencing |
| ICD-10-CM Code | Q61.8 (Other cystic kidney diseases) |
| LOINC Code | 21636-6 (Nephronophthisis 1 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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