Test Price
2,800 AED✅ Home Collection Available
PITPNM3 Gene Cone-Rod Dystrophy Type 5 Genetic Test – 2,800 AED
Executive Summary & Core Metrics
✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
🚚 Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy.
📞 Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
💳 Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PITPNM3 Gene Cone-Rod Dystrophy Type 5 Genetic Test is a comprehensive Next-Generation Sequencing (NGS) assay that screens the entire coding region of the PITPNM3 gene for pathogenic variants associated with autosomal recessive cone-rod dystrophy type 5. This test is vital for accurate molecular diagnosis, carrier detection, and informed ophthalmologic management.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision | 99.9% Analytical Sensitivity & Specificity (full gene sequencing) | 25–35% detection rate with targeted mutation panels |
| Methodology | NGS (Illumina platform) with Sanger confirmation | Sanger sequencing of common exons only |
| Turnaround Time (TAT) | 3–4 Weeks | 6–8 Weeks |
| ISO Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | None |
Physician Insight & Safety Protocols
Dr. Lina Osama Zaki Quteineh (DHA: 9294403), Consultant Medical Genetics, notes: “A positive PITPNM3 variant confirms the genetic diagnosis of cone-rod dystrophy type 5. However, clinical correlation with full-field ERG, optical coherence tomography, and family history is essential to guide prognosis and low-vision rehabilitation. Molecular results should always be combined with a comprehensive ophthalmologic assessment.”
Patient Advisory
Do not discontinue prescribed medication or eye drops without consulting your doctor. This genetic test is for diagnostic purposes only and does not replace clinical management. Always consult your ophthalmologist or genetic counselor before making changes to your therapy.
Exclusion Criteria & Emergency Red Flags
- Recent (<6 weeks) blood transfusion or bone marrow transplant may cause chimerism and invalidate germline testing.
- Active severe infection or hemodynamic instability – postpone elective collection.
- ER Red Flags: Sudden acute vision loss, severe ocular pain, or signs of retinal detachment – seek immediate emergency ophthalmologic care rather than genetic testing first.
- For minors, legal guardian consent is mandatory as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What does the PITPNM3 gene test detect, and how long does it take?
A: This NGS test identifies pathogenic mutations in the PITPNM3 gene associated with autosomal recessive cone-rod dystrophy type 5. Results are typically available within 3 to 4 weeks from sample arrival.
2. Is home blood collection available across all Emirates?
A: Yes, our VIP mobile phlebotomy service covers Abu Dhabi, Dubai, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah. Cold-chain transport ensures sample integrity and 99.9% diagnostic sensitivity.
3. How do I confirm insurance coverage before booking?
A: Send your Emirates ID and insurance card via WhatsApp to +971 54 548 8731. Our team will verify direct billing eligibility within minutes, in full compliance with DHA regulations.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance
This test is performed under DHA License 1143 at DNA Labs UAE, Dubai Healthcare City. Your personal and genetic data are protected under 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 testing for minors requires parental or legal guardian consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | PITPNM3 Gene Cone-Rod Dystrophy Type 5 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) – Standard Peripheral Whole Blood |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | H35.54 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians