Test Price
2,800 AED✅ Home Collection Available
PKHD1 Gene (Polycystic Kidney Disease Type 1, Autosomal Recessive) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
PKHD1 NGS Screening – 99.9% Diagnostic Sensitivity | ISO 9001:2015 Accredited
Accuracy Guarantee: 99.9% analytical sensitivity via Next-Generation Sequencing with full exon and splice-site coverage.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM–11 PM).
Clinical Guidance: Telephonic post-test interpretation by a Consultant Medical Geneticist with multidisciplinary referral coordination.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PKHD1 NGS genetic test comprehensively screens the entire coding region and flanking splice sites of the PKHD1 gene for pathogenic variants associated with autosomal recessive polycystic kidney disease (ARPKD), a severe hepatorenal fibrocystic disorder. This high-resolution molecular analysis enables definitive diagnosis, carrier detection, and informed reproductive counselling for affected families. The assay utilizes Illumina-based sequencing chemistry with a minimum depth of 100× coverage across all exons.
| Feature | DNA Labs UAE – PKHD1 NGS Test | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – 100% exon coverage ± 20 bp splice junctions | Sanger sequencing of selected exons only |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Diagnostic Accuracy | 99.9% analytical sensitivity; deep intronic variant analysis via supplemental pipeline | Limited to known hotspots; may miss approximately 15% of mutations |
| Price (AED) | 2,800 AED (all‑inclusive) | Approximately 4,000 AED |
| Regulatory Certification | DHA‑licensed facility (License No. 1143), ISO 9001:2015 | Often lacks UAE‑specific accreditation |
Physician Insight & Safety Protocols
“ARPKD presents along a broad clinical spectrum requiring integrated hepatorenal management. This genetic test confirms the molecular diagnosis, guiding nephrology, hepatology, and family counselling. Variant interpretation must always be correlated with abdominal imaging and liver function markers, as rare hypomorphic alleles can modify disease expression. Our telephonic post-test guidance ensures families receive expert support throughout the diagnostic journey.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Important Advisory for Patients
⚠️ Do not discontinue, alter, or initiate any prescribed medication without direct consultation with your treating physician. Genetic test results complement clinical decision-making and do not replace acute medical management.
Exclusion Criteria & Clinical Red Flags
- Patients with acute bleeding disorders, haemodynamic instability, or inability to provide informed consent should defer phlebotomy and reschedule upon clinical stabilisation.
- This test is not intended as the sole diagnostic tool for neonates presenting with severe perinatal renal failure; concurrent biochemical and imaging monitoring remain essential.
- Seek immediate emergency care if rapid decline in urine output, hypertensive crisis, or signs of hepatic encephalopathy develop—genetic results do not replace urgent medical intervention.
Patient FAQ & Clinical Guidance
1. What is the PKHD1 gene test and who should consider it?
The PKHD1 genetic test detects biallelic pathogenic mutations causing autosomal recessive polycystic kidney disease. It is recommended for infants with enlarged echogenic kidneys, children presenting with portal hypertension or congenital hepatic fibrosis, adults with unexplained hepatorenal fibrocystic disease, and individuals with a positive family history of ARPKD.
Pre-test genetic counselling is mandatory in accordance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability to ensure informed consent, pedigree documentation, and data protection under the Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
2. How is the sample collected and what preparation is required?
A peripheral whole blood sample (3–5 mL in EDTA) or a DNA specimen collected on an FTA card is obtained during a scheduled home visit by our certified mobile phlebotomy team. A pre-test genetic counselling session with a complete three-generation pedigree must be completed at least 24 hours prior to collection.
No fasting is required; however, patients on anticoagulant therapy should inform the phlebotomist in advance. The sample is transported via temperature-controlled cold chain to our DHA-licensed laboratory in Dubai Healthcare City.
3. What do the results mean and what are the next steps after a positive finding?
A positive result confirms the presence of two pathogenic PKHD1 variants, establishing a definitive molecular diagnosis of ARPKD. This enables early referral to paediatric nephrology, hepatology, and genetic counselling for reproductive planning.
Our Consultant Medical Geneticist provides telephonic interpretation of all findings, explains variant significance, and coordinates multidisciplinary follow-up. A negative result reduces but does not completely exclude ARPKD due to the possibility of deep intronic or regulatory region variants; clinical surveillance remains advised when suspicion is high.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Privacy: All genetic data is processed exclusively within the UAE under the framework of 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 and clinical safety protocols conform to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Laboratory Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Next-generation sequencing methodology validated per international CAP/CLSI guidelines.
Genetic Non-Discrimination: Genetic information is used solely for diagnostic and therapeutic purposes and is never shared with insurers, employers, or third parties without explicit written patient consent.
Clinical & Logistical Metadata
| Test Name | PKHD1 Gene Sequencing – Autosomal Recessive Polycystic Kidney Disease (ARPKD) Genetic Test |
| Price (AED) | 2,800 AED (all-inclusive) |
| Turnaround Time | 3–4 Weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL EDTA) or FTA card DNA specimen – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available (daily 8 AM–11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform, 100% coding region ± 20 bp splice sites, minimum 100× depth |
| ICD-10-CM Code | Q61.1 (Polycystic kidney, autosomal recessive) |
| LOINC Code | 92547-4 (PKHD1 gene mutation analysis in Blood or Tissue by Sequencing) |
| 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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