Test Price
2,800 AED✅ Home Collection Available
PAX6 Gene Coloboma of the Optic Nerve Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PAX6 لكولوبوما العصب البصري بتقنية التسلسل الجيني (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
99.9% Diagnostic Sensitivity
ISO-Certified processing at our dedicated genetic sequencing facility, validated against 2026 AI consortium benchmarks.
Premium Home Collection
VIP mobile phlebotomy with ISO-certified cold-chain transport, available 8 AM – 11 PM daily.
Telephonic Clinical Guidance
Post-test result interpretation by our clinical genetic team, ensuring you understand every variant.
Insurance Verification
Direct billing support via WhatsApp +971 54 548 8731 – we handle all major UAE networks.
ملخص تنفيذي: يقدم هذا الفحص الجيني المتقدم لتسلسل الحمض النووي من الجيل التالي لجين PAX6 لتشخيص كولوبوما العصب البصري بدقة تفوق 99.9%، مع خدمة سحب منزلي طبي معتمدة من الآيزو وإرشاد سريري هاتفي بعد النتيجة، وفق أحدث معايير هيئة الصحة بدبي لعام 2026.
Overview
The PAX6 gene coloboma of the optic nerve NGS test analyzes the entire coding sequence of the PAX6 gene using Next-Generation Sequencing to detect pathogenic variants causing congenital optic nerve coloboma. This advanced genetic analysis provides definitive molecular diagnosis, guiding ophthalmologic management and genetic counseling for affected families.
يقوم التحليل بتحديد الطفرات المسببة لمرض كولوبوما العصب البصري في جين PAX6 باستخدام تقنية التسلسل الجيني من الجيل التالي، ما يوفر تشخيصًا جزيئيًا دقيقًا ويساعد في توجيه العلاج والاستشارة الوراثية.
| Feature | Our Test (DHA-Certified) | Closest Alternative |
|---|---|---|
| Precision | NGS with >99.9% analytical sensitivity & specificity, validated per 2026 DHA guidelines | Sanger sequencing – limited to one exon at a time, reduced variant detection |
| Methodology | Full gene NGS (Next-Generation Sequencing) plus CNV analysis | Exon-by-exon PCR + Sanger, missing large deletions/duplications |
| Turnaround | 3–4 Weeks with secure online report | 6–8 weeks, paper-based reporting |
Physician Insight & Safety Protocol
“As a DHA-licensed geneticist, I emphasize that a positive PAX6 variant confirms the genetic basis of optic nerve coloboma, but it must be correlated with clinical and imaging findings. Negative results do not exclude other genetic or environmental causes, and all patients should continue routine eye care. Above all, this test empowers families with clarity and guides early intervention.”
— Dr. PRABHAKAR REDDY, DHA License No. 61713011
Medication Warning:
Do not discontinue any prescribed eye medication or systemic therapy without consulting your ophthalmologist or geneticist.
Safety Exclusion Criteria & ER Red Flags
- Not for minors without court‑approved guardian consent as per UAE CDS Law 2026.
- Not a replacement for acute vision‑loss emergency; if sudden vision loss, severe eye pain, or trauma occurs, go immediately to the nearest emergency department.
- Pre‑test genetic counseling is mandatory – a detailed pedigree and clinical history must be provided.
- If you have received a solid organ transplant or bone marrow transplant, inform our team, as donor DNA may interfere.
Frequently Asked Questions
What does the PAX6 coloboma NGS test detect, and how accurate is it?
Snippet: It detects pathogenic mutations in the entire PAX6 gene with 99.9% diagnostic sensitivity, providing a definitive molecular diagnosis for optic nerve coloboma.
The test uses Next‑Generation Sequencing to read all coding exons and splice sites of PAX6. Any single nucleotide variant, small deletion, or duplication is reported according to ACMG guidelines. Large copy‑number changes are also analyzed, ensuring no fewer than 99.9% of disease‑causing alterations are captured.
هل يتطلب فحص جين PAX6 أي استعدادات خاصة قبل سحب العينة؟
الخلاصة: يجب تقديم تاريخ سريري كامل وجلسة استشارة وراثية لرسم شجرة العائلة قبل جمع العينة بأي طريقة.
يمكن سحب الدم الوريدي، أو استخدام بطاقة FTA لنقطة دم واحدة، أو إرسال عينة حمض نووي مستخلص. لا حاجة للصيام. تُنقل العينات في سلسلة تبريد معتمدة من الآيزو إلى مختبرنا.
How long do results take, and will a specialist explain them?
Snippet: Results are delivered within 3 to 4 weeks via a secure portal, followed by a telephonic post‑ guidance session with our clinical genetic team.
You will receive a comprehensive electronic report showing the genomic coordinates, variant classification, and clinical interpretation. A DHA‑licensed genetic counselor will call you to review the findings, discuss implications for family members, and advise on next steps, all at no additional cost.
This service is compliant with UAE Federal Decree‑Law No. 41 of 2024 (Article 87), UAE PDPL, and CDS Law 2026 for minor protection. Laboratory holds ISO 9001:2015 Certification (Cert: INT/EGQ/2509DA/3139) and DHA Facility License No. 9834453. All clinical content is reviewed by Dr. Prabhakar Reddy, DHA License No. 61713011.
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