Test Price
2,800 AED✅ Home Collection Available
CEP164 Gene Nephronophthisis Type 15 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- ✓ Test Price: 2,800 AED (Inclusive of pre- and post-test genetic counselling).
- ✓ Turnaround Time: 14–21 working days from sample receipt.
- ✓ Sample Type: Peripheral whole blood (2–5 mL in EDTA tube) or FTA card blood spot; alternative: extracted DNA (≥1 µg).
- ✓ Methodology: Next‑Generation Sequencing (NGS) covering all coding exons and flanking intronic regions of CEP164.
- ✓ Diagnostic Accuracy: 99.9% sensitivity and specificity for pathogenic SNVs and indels (validated per ISO 9001:2015).
- ✓ Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM across UAE.
- ✓ Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test employs Next‑Generation Sequencing to detect pathogenic and likely pathogenic variants across the entire coding region of the CEP164 gene, the molecular cause of Nephronophthisis type 15 – a multi‑system ciliopathy affecting the kidneys, liver, and eyes. Early molecular diagnosis enables personalised surveillance, anticipatory management, and informed family planning.
| Feature | Our Test (NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (Full Gene) | Sanger Sequencing (Targeted Regions Only) |
| Diagnostic Sensitivity | 99.9% (covers all coding exons) | ~85% (limited loci) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price (AED) | 2,800 | 2,200–2,500 |
Physician Insight & Safety Protocols
“A positive CEP164 result must always be interpreted alongside renal ultrasound, liver function, and ophthalmological findings. The test illuminates the genetic road, but the clinical picture drives the journey. It is essential that families receive pre‑ and post‑test genetic counselling to understand the autosomal recessive inheritance and recurrence risk.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Medication Safety Advisory
Do not discontinue prescribed medication without consulting your doctor.
Genetic results may identify susceptibility, but they do not replace ongoing treatment plans. All management changes must be guided by your treating physician.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Test Not Performed If):
- Recent allogeneic bone marrow transplant or stem cell therapy (donor DNA contamination)
- Patient unable to provide informed consent or lacks legal guardian consent (per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability)
- Insufficient DNA quantity/quality from sample (pre-analytical failure)
- Unwillingness to attend mandatory pre‑test genetic counselling
ER Red Flags – Seek Immediate Medical Attention:
- Acute flank pain with fever or haematuria
- Severe electrolyte imbalances (hyperkalemia, hyponatremia) with ECG changes
- Rapidly declining urine output or anuria
- Signs of acute liver decompensation (jaundice, ascites)
Patient FAQ & Clinical Guidance
1. What is the CEP164 genetic test used for?
This test identifies pathogenic mutations in the CEP164 gene that cause nephronophthisis type 15, a ciliopathy affecting the kidneys, liver, and eyes, enabling early diagnosis and targeted family screening.
2. What sample is required and how is collection done at home?
A blood draw (2–5 mL in EDTA tube) or one drop of blood on an FTA card is required. Our VIP mobile phlebotomy team visits your UAE home with full cold-chain transport, ensuring specimen integrity per ISO 9001:2015 standards. Collection is available daily from 8 AM to 11 PM.
3. Are genetic counselling and privacy guaranteed?
A certified genetic counsellor draws a pedigree and provides pre‑/post‑test guidance. All genetic data is protected under 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. Data is never shared without explicit consent.
4. How long does it take to get results?
The turnaround time is 14–21 working days from the date of sample receipt at the laboratory. You will receive a comprehensive report including variant classification and clinical recommendations.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: This service fully complies 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. All genetic data is encrypted, access-controlled, and processed exclusively within UAE jurisdiction.
Medical Liability & Consent: Pre‑ and post‑test genetic counselling follows the standards set forth in Federal Decree-Law No. 4 of 2016 on Medical Liability to ensure informed consent and patient safety.
Laboratory Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | CEP164 Gene Nephronophthisis Type 15 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 14–21 working days |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card blood spot; alternative: extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) – full gene coding region analysis |
| ICD-10-CM Code | Q61.8 (Nephronophthisis), Z13.79 (Genetic screening), Z14.8 (Genetic carrier) |
| LOINC Code | 81247-4 (CEP164 gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | Licence No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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