Test Price
2,800 AED✅ Home Collection Available
CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين CSF2RA لخلل التمثيل الغذائي للفاعل بالسطح الرئوي من النوع الرابع عبر تسلسل الجينوم الكامل في الإمارات | ٢٨٠٠ درهم | معتمد من هيئة الصحة بدبي
Executive Summary / ملخص تنفيذي
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing and bioinformatics pipeline.
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM–11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation provided by a board‑certified genetic counsellor.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
نضمن دقة تشخيصية تصل إلى 99.9% باستخدام تقنية متطورة معتمدة، ونوفر خدمة سحب منزلي مع سلسلة تبريد آمنة، واستشارة طبية هاتفية بعد الفحص لتفسير النتائج، مع التحقق الفوري من تغطية التأمين.
Overview
The CSF2RA gene encodes the receptor for granulocyte‑macrophage colony‑stimulating factor, essential for surfactant homeostasis in alveolar macrophages. Pathogenic variants cause Surfactant Metabolism Dysfunction Type 4, a rare neonatal interstitial lung disease presenting with progressive respiratory distress and failure to thrive. Our NGS‑based test interrogates the entire coding region and intron‑exon boundaries with deep coverage, enabling early, definitive diagnosis.
فحص جين CSF2RA بتقنية التسلسل الجيني المتقدم يكتشف الطفرات المسببة لاضطراب أيض الفاعل بالسطح الرئوي لدى الأطفال، مما يسمح بالتشخيص المبكر و التدخل العلاجي المُوجَّه.
Relevant Specialties (Clinical Intent): Medical Geneticist (diagnosis & family counselling), Pediatric Pulmonologist (lung‑targeted management), Neonatologist (acute neonatal care).
| Feature | Our NGS Test | Standard Sanger Sequencing |
|---|---|---|
| Precision | Full gene sequencing including intron‑exon junctions, copy number variant (CNV) analysis | Targeted hotspot mutations only |
| Methodology | Next‑Generation Sequencing (NGS) with >100× mean coverage, ACMG variant interpretation | Sanger sequencing (low‑throughput, limited to known variants) |
| Turnaround Time | 3–4 weeks | 6–8 weeks for full gene |
| Clinical Accuracy | 99.9% analytical sensitivity; validated against CAP/CLIA standards | High specificity but misses novel or deep intronic mutations |
Physician Insight & Safety Protocol
“As a pathologist deeply involved in molecular diagnostics, I always stress that genetic findings must be correlated with clinical phenotype and imaging. This CSF2RA NGS panel offers a robust tool for confirming surfactant dysfunction, but proper interpretation requires a multi‑disciplinary team including neonatology and clinical genetics.” — Dr. Prabhakar Reddy, DHA License 61713011
⚠️ Medication Warning: Do not discontinue prescribed medication without consulting your doctor.
Stopping respiratory support or corticosteroid therapy without medical supervision can lead to acute decompensation and rapid clinical deterioration.
Safety Exclusion Criteria & ER Red Flags
- Exclusion Criteria: Patients with active respiratory failure requiring invasive ventilation – home collection only after clinical stabilization.
- Exclusion Criteria: Neonates weighing < 2.5 kg for capillary collection; cord blood not accepted.
- ER Red Flags: Seek emergency care if the child develops severe tachypnea, cyanosis, grunting, or oxygen saturation <90% at rest.
- ER Red Flags: Sudden lethargy, apnea spells, or altered consciousness – call 998 immediately.
Patient FAQ & Clinical Guidance
What is the CSF2RA gene test, and why is it needed?
This analyzes the entire CSF2RA gene using next-generation sequencing to identify pathogenic mutations causing surfactant dysfunction type 4, a severe neonatal lung disease.
Early genetic confirmation enables targeted management, including exogenous surfactant therapy, lung transplantation evaluation, and precise genetic counselling for family planning.
يحلل هذا الفحص جين CSF2RA بالكامل بتقنية الجيل التالي للتعرف على الطفرات المسببة لاضطراب الفاعل بالسطح من النوع الرابع.
How is the sample collected, and is it painful for infants?
We offer a virtually painless dried blood spot collection on FTA card or a gentle venipuncture by experienced pediatric phlebotomists at your home.
The home service uses a single-use lancet and specialized pediatric techniques; the entire process takes under 3 minutes with minimal discomfort.
نقدم جمع العينة بطريقة غير مؤلمة تقريبًا باستخدام بطاقة FTA أو سحب وريدي بسيط على يد ممرضين متخصصين في الأطفال.
When will I receive results, and how will they be explained?
Results are available within 3 to 4 weeks, accompanied by a comprehensive genetic counseling session via telephone with a clinical geneticist.
You will receive a detailed report with variant classification, clinical significance, and recommended follow-up plans, including coordination with your treating pulmonologist.
تظهر النتائج خلال ٣ إلى ٤ أسابيع، مع جلسة استشارة وراثية هاتفية شاملة لتفسير التقرير.
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.
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All reports reviewed by DHA-Certified physicians