Test Price
2,800 AED✅ Home Collection Available
PORCN Gene Focal Dermal Hypoplasia NGS Genetic Test in UAE – 2,800 AED
Executive Summary & Core Metrics
- ✔99.9% Diagnostic Accuracy: Next‑generation sequencing (NGS) of the PORCN gene, performed under ISO 9001:2015 quality management, ensures maximum reliability.
- ✔VIP Mobile Phlebotomy & Cold‑Chain Home Collection: Our nursing team collects your blood sample at your convenience, daily from 8 AM to 11 PM, preserving sample integrity with temperature‑controlled transport.
- ✔Post‑Result Teleconsultation: Our genetic specialists review your report and guide you through the clinical implications and next steps.
- ✔Direct Insurance Verification: Contact us on WhatsApp at +971 54 548 8731 to verify your insurance coverage before booking.
Test Overview & Methodology
The PORCN gene NGS test is a comprehensive genetic analysis designed to detect pathogenic mutations in the PORCN gene, which causes Focal Dermal Hypoplasia (Goltz syndrome) – a rare multisystem disorder characterized by skin, skeletal, and ocular abnormalities. This state‑of‑the‑art next‑generation sequencing delivers precise molecular diagnosis, enabling informed clinical management, genetic counseling, and family risk assessment.
| Parameter | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (Illumina NovaSeq) | Single‑gene Sanger sequencing |
| Gene Coverage | Full coding region + splice sites ±10 bp | Selected exons only (limited coverage) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Sensitivity | >99.9% for point mutations & small indels | ~95% for targeted regions |
| Accreditation | ISO 9001:2015, DHA Licensed (1143) | Varies |
Physician Insight & Safety Protocols
“This NGS test provides a precise molecular diagnosis of Focal Dermal Hypoplasia. However, the interpretation must always integrate the full clinical picture, including dermatological, skeletal, and ophthalmological findings. I strongly recommend pre‑test genetic counseling and post‑test consultation with a clinical geneticist. Do not alter any prescribed treatments without medical advice.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Safety & Medication Advisory
Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients with active febrile illness, acute skin infection at the venipuncture site, or inability to provide informed consent (guardian required for minors).
- Emergency Red Flags: Sudden widespread blistering, rapidly progressing skin atrophy with severe pain, signs of systemic infection (fever, chills) — seek immediate ER care. This genetic test is not an emergency diagnostic tool.
- Mandatory Pre‑Test: Documented clinical suspicion of Goltz syndrome, genetic counseling session with pedigree chart, and signed consent as per UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability. Minors require legal guardian consent.
Patient FAQ & Clinical Guidance
1. What exactly does the PORCN gene NGS test diagnose?
Identifies mutations in the PORCN gene causing focal dermal hypoplasia, enabling accurate diagnosis and genetic counseling for affected families. The test detects single nucleotide variants, small insertions/deletions, and copy number changes across the entire coding region, confirming Goltz syndrome even in mildly symptomatic individuals or carriers.
2. How should I prepare for the test and what sample is needed?
We require a blood sample (whole blood or dried blood spot on FTA card) or previously extracted DNA. No fasting is required, but we strongly recommend a pre‑test genetic counseling session to document family history. Our home collection team handles the entire process using cold‑chain transport for sample integrity.
3. What are the legal and privacy protections for my genetic data in the UAE?
All genetic information is protected under the UAE Personal Data Protection Law (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Results are shared only with the treating physician and the individual/guardian. Our lab holds ISO 9001:2015 certification and DHA license (1143), and we never share data with third parties without explicit written consent.
UAE Regulatory & Data Privacy Adherence
Compliance with UAE Health Data Protection Frameworks
All genetic data is processed in accordance 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. Clinical testing safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Your data remains confidential and is never disclosed without your explicit permission.
Clinical & Logistical Metadata
| Test Name | PORCN Gene Focal Dermal Hypoplasia NGS Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina NovaSeq |
| ICD-10-CM Code | Q87.2 |
| LOINC Code | 96507-0 |
| DHA Facility License & Laboratory Address | 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians