Test Price
2,800 AED✅ Home Collection Available
PHOX2B Gene Central Hypoventilation Syndrome (CCHS) with or without Hirschsprung Disease – Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل الجين PHOX2B لمتلازمة نقص التهوية المركزي الخلقي مع أو بدون داء هيرشسبرونغ – اختبار الحمض النووي الوراثي بتقنية التسلسل الجيني من الجيل التالي (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
الملخص التنفيذي: نُقدم تحليلًا جينيًا شاملاً ومُعتمدًا للكشف عن الطفرات في جين PHOX2B المُرتبط بمتلازمة نقص التهوية المركزي الخلقي وداء هيرشسبرونغ. يتم الفحص باستخدام تقنية التسلسل الجيني فائق الدقة وبدقة تشخيصية تصل إلى 99.9٪ وفق معايير الآيزو 9001:2015، مع خدمة سحب منزلي متميزة على مدار الساعة واستشارة طبية بعد النتيجة.
- Accuracy Guarantee99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
- Premium LogisticsPaid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical GuidanceTelephonic Post-Test Clinical Guidance in result interpretation by DHA-Certified Genetic Counselors.
- InsuranceDirect Billing Verification via WhatsApp +971 54 548 8731.
PHOX2B Gene Sequencing Overview & Clinical Significance
The PHOX2B gene test utilizes Genetic Test delivers 99.9% analytical sensitivity within 3–4 weeks using blood or DNA from an FTA card, ensuring reliable results for UAE families.
| Feature | Our PHOX2B NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% analytical sensitivity; detects SNVs, indels, and copy number variants | Limited to smaller mutations; may miss large deletions/duplications |
| Methodology | NGS (Next Generation Sequencing) – comprehensive gene coverage | Sanger sequencing – targeted, lower throughput |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks (often longer for full gene analysis) |
| Sample Type | Whole Blood, Extracted DNA, or One Drop of Blood on FTA Card | Usually requires blood or extracted DNA |
Physician Insight & Safety Protocol
“As a senior clinical geneticist, I understand the anxiety that accompanies genetic testing for a child with breathing difficulties. This test is a critical step toward a precise diagnosis, but it must be interpreted alongside a comprehensive clinical evaluation. Please do not make any treatment decisions without thorough discussion with your healthcare provider.” – Dr. PRABHAKAR REDDY, DHA License 61713011
Medication Warning: Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria:
- Recent blood transfusion (within 2 weeks), which may affect DNA stability.
- Inadequate sample volume or degraded DNA not meeting quality metrics.
- Known hematologic malignancy requiring immediate oncologic intervention (risk of non‑diagnostic sample).
Emergency Red Flags:
- If the patient (especially infant) experiences apnea, cyanosis, severe bradycardia, or loss of consciousness during or after sample collection, call 998 or proceed to the nearest Emergency Department immediately.
Frequently Asked Questions & Clinical Guidance
1. What is the PHOX2B gene test used for?
PHOX2B NGS testing identifies disease-causing mutations in the PHOX2B gene, confirming congenital central hypoventilation syndrome.
يحدد فحص جين PHOX2B بتقنية NGS الطفرات المسببة لمتلازمة نقص التهوية المركزي الخلقي وداء هيرشسبرونغ بدقة عالية.
2. How is the test performed and what sample is needed?
The requires a blood sample, extracted DNA, or a single drop on an FTA card.
يتم إجراء الفحص باستخدام عينة دم كاملة أو حمض نووي مستخلص أو قطرة دم على بطاقة FTA.
3. How long do results take and what is the price?
Results are delivered within 3 to 4 weeks at a fixed cost of 2800 AED.
تظهر النتائج خلال 3 إلى 4 أسابيع بتكلفة ثابتة قدرها 2800 درهم.
DHA Licensed Facility: 9834453 | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
Compliance with Federal Decree-Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors), UAE PDPL Data Privacy Standards. All testing performed in an ISO 9001:2015 accredited laboratory with secure sample handling and reporting.
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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.
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