Test Price
2,800 AED✅ Home Collection Available
PHOX2A Gene Congenital Fibrosis of Extraocular Muscles Type 2 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PHOX2A المرتبط بالتليف الخلقي للعضلات خارج المقلة من النوع الثاني في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary & Clinical Assurance
- ◆Diagnostic Precision: 99.9% analytical sensitivity and specificity through ISO 9001:2015 accredited NGS workflow, delivering a definitive molecular diagnosis for CFEOM2.
- ◆Premium Logistics: Paid hospital-grade home collection via ISO-certified cold-chain transport; VIP mobile phlebotomy available from 8 AM to 11 PM daily.
- ◆Clinical Integration: Mandatory pre- and post-test telephonic clinical guidance by DHA-licensed physicians, ensuring actionable result interpretation.
- ◆Insurance & Payment: Direct billing verification and pre-approval assistance via WhatsApp at +971 54 548 8731.
ملخص تنفيذي باللغة العربية
يقدم هذا الاختبار الجيني المتطور تشخيصًا جزيئيًا دقيقًا للتليف الخلقي للعضلات خارج المقلة من النوع الثاني (CFEOM2) المرتبط بجين PHOX2A، وذلك وفقًا لأعلى معايير الجودة العالمية (ISO 9001:2015) وتوجيهات هيئة الصحة بدبي لعام 2026. نضمن دقة تبلغ 99.9% مع خدمة سحب منزلي متميزة ونقل مبرد معتمد، إلى جانب استشارة طبية هاتفية لتفسير النتائج. التحقق من تغطية التأمين الصحي متاح مباشرة عبر الواتساب على الرقم +971545488731.
Comprehensive Overview
This single-gene sequencing test targets the PHOX2A gene to confirm Congenital Fibrosis of Extraocular Muscles Type 2 (CFEOM2), a rare autosomal dominant disorder that disrupts eye movement from birth. Delivered on a Next-Generation Sequencing (NGS) platform, the assay identifies pathogenic variants with exceptional depth and accuracy, supporting paediatric, ophthalmology, and genetics-led care pathways.
يستهدف هذا الاختبار فحص جين PHOX2A باستخدام تقنية التسلسل الجيني من الجيل التالي لتأكيد تشخيص التليف الخلقي للعضلات خارج المقلة من النوع الثاني، وهو اضطراب وراثي نادر يؤثر على حركة العين منذ الولادة.
| Metric | Our PHOX2A NGS Test | Closest Alternative (Targeted Sanger) |
|---|---|---|
| Precision | 99.9% sensitivity for single nucleotide variants & indels | ~95% per amplicon; misses deep intronic variants |
| Method | Next-Generation Sequencing (Illumina) | Sanger Sequencing of coding exons only |
| Turnaround | 3–4 Weeks with comprehensive report | 2–3 Weeks; limited variant annotation |
Physician Insight & Clinical Safety Protocol
“A positive PHOX2A result provides critical molecular clarity for families navigating a rare congenital eye movement disorder, but final diagnosis must always integrate specialist ophthalmologic and neurologic assessments. As your consulting physician, I strongly recommend pre-test genetic counselling to set realistic expectations, and I underscore that this test does not replace ongoing clinical care. Never alter or discontinue any prescribed medication without direct consultation with your treating physician.”
— Dr. PRABHAKAR REDDY, DHA License 61713011
⚠ Patient Safety: Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients unable to provide valid informed consent or those with active systemic infection contraindicating blood draw.
- Exclusion: Home collection is deferred if the patient exhibits acute febrile illness or localised skin infection at the venipuncture site.
- Red Flag: Seek emergency care immediately if you experience sudden loss of vision, explosive double vision, severe eye pain, or new-onset neurological symptoms such as facial weakness.
- Red Flag: In infants, any acute change in ocular alignment, pupillary abnormality, or lethargy requires urgent paediatric evaluation.
Regulatory Adherence (UAE 2026)
This service strictly complies with Federal Decree-Law No. 41 of 2024 (Art. 87) on genetic data protection, the 2026 Communicable Disease Surveillance Law for paediatric testing, and the UAE Personal Data Protection Law. All genetic counselling and reporting follow DHA/MOHAP standards under facility license 9834453 and ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Frequently Asked Questions
What is the purpose of the PHOX2A gene test?
This test detects pathogenic mutations in the PHOX2A gene responsible for congenital fibrosis of extraocular muscles type 2, enabling early diagnosis and family risk assessment.
يكشف هذا الاختبار الطفرات الممرضة في جين PHOX2A المسؤولة عن التليف الخلقي للعضلات خارج المقلة من النوع الثاني، مما يتيح التشخيص المبكر وتقييم المخاطر العائلية.
How is the sample collected and what is the turnaround time?
A single blood draw (or DNA extracted from blood) is sequenced by NGS, with a definitive report issued within 3 to 4 weeks.
تُسحب عينة دم واحدة (أو حمض نووي مستخلص) وتُحلل بتقنية التسلسل من الجيل التالي، مع إصدار تقرير نهائي خلال 3 إلى 4 أسابيع.
Is this genetic test covered by insurance in the UAE?
Most UAE insurance plans cover rare congenital disorder testing when medically necessary; we provide free billing verification via WhatsApp at +971 54 548 8731.
تغطي معظم خطط التأمين في الإمارات فحوصات الاضطرابات الخلقية النادرة عند الحاجة الطبية؛ نقدم خدمة التحقق المجاني من التغطية عبر الواتساب على +971545488731.
Pre‑Test Requirements
A pre‑ genetic counselling session is mandatory to construct a family pedigree and to discuss the implications of PHOX2A mutation detection. Patients must provide a verified clinical history of ocular motility disorder or family history of CFEOM. Samples accepted: whole blood (EDTA), extracted DNA, or one drop of blood on FTA card.
Regulatory Notes
All testing is performed under DHA facility license 9834453. Personal genetic data is processed in accordance with UAE PDPL and Federal Decree-Law No. 41 of 2024. Minor patients require explicit parental consent per CDS Law 2026.
For appointments or insurance inquiries, contact +971 54 548 8731.
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