Test Price
2,800 AED✅ Home Collection Available
PDE6H Gene Achromatopsia Type 6 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary: This advanced genetic test provides 99.9% diagnostic sensitivity for detecting PDE6H gene mutations causing achromatopsia type 6, an inherited cone-photoreceptor disorder. The test is processed in our ISO 15189-accredited laboratory with rigorous quality controls, ensuring precise variant identification and clinical relevance.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189‑Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with a DHA-licensed physician.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) – Laboratory & Quality Management.
Test Overview & Methodology
The PDE6H gene test uses Next-Generation Sequencing (NGS) with >30× coverage and Sanger validation to identify pathogenic variants responsible for autosomal recessive achromatopsia type 6. This comprehensive analysis covers all coding exons and splice sites, providing definitive molecular diagnosis for patients presenting with congenital color blindness, photophobia, and nystagmus.
| Feature | Our Test – PDE6H NGS | Closest Alternative (Standard Retinal Panel) |
|---|---|---|
| Precision | >30× coverage with Sanger validation of pathogenic variants | Lower coverage, may miss deep intronic mutations |
| Methodology | Next‑Generation Sequencing (NGS) + bioinformatic pipeline | NGS‑based panel, limited to hotspot regions |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I recognise the profound impact a definitive molecular diagnosis has on patient care and family planning. This PDE6H gene panel offers exceptional accuracy for achromatopsia type 6, enabling tailored clinical management and informed genetic counselling. Correlation with full ophthalmic evaluation remains essential to integrate genetic findings into a comprehensive care plan.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License No. 9294403
Advisory: Do Not Discontinue Medication Without Consultation
Genetic results alone do not replace ongoing therapy. Always consult your physician before making any changes to prescribed medication or treatment regimen.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Minors without legal guardian consent; individuals with active untreated infection; persons unable to provide informed consent.
- Emergency: Seek immediate medical attention if after blood draw you experience syncope, expanding hematoma >5 cm, or persistent bleeding.
Patient FAQ & Clinical Guidance
1. What is the purpose of this PDE6H gene test?
This test analyzes the PDE6H gene to diagnose achromatopsia type 6, an inherited retinal dystrophy causing complete color blindness, photophobia, and reduced visual acuity from birth. A definitive genetic diagnosis enables accurate prognosis, tailored educational support, and family planning guidance.
2. How is the sample collected?
A simple peripheral blood draw is performed by our certified phlebotomist. For your convenience, we offer VIP Mobile Phlebotomy at home or a secure sample collection at our DHA-licensed facility in Dubai Healthcare City. The sample is transported under temperature-controlled cold chain to our ISO 15189-accredited laboratory.
3. What is the turnaround time for results?
Results are delivered within 3 to 4 weeks from sample receipt. This timeframe includes comprehensive NGS sequencing, bioinformatic analysis, Sanger confirmation of reported variants, and a detailed clinical report reviewed by our medical genetics team.
UAE Regulatory & Data Privacy Adherence
Data Protection: All genetic data is processed in full compliance 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. Patient consent, data encryption, and access controls adhere to the highest standards of confidentiality.
Medical Liability: Clinical testing and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring safe and ethical practice.
Accreditation: Our laboratory operates under DHA Facility License No. 1143, with ISO 15189 accreditation for genetic testing and ISO 9001:2015 for quality management systems.
Clinical & Logistical Metadata
| Test Name | PDE6H Gene Achromatopsia Type 6 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | H53.51, H35.5 |
| LOINC Code | 81247-9 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians