Test Price
2,800 AED✅ Home Collection Available
EEF1A2 Gene (Autosomal Dominant Intellectual Disability Type 38) Next-Generation Sequencing Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين EEF1A2 للإعاقة الذهنية الصبغية الجسدية السائدة (النوع 38) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Clinical-Grade Neurogenetic Diagnosis — At Your Doorstep
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited laboratory and orthogonal Sanger confirmation.
- Premium Logistics: Hospital‑Grade Home Collection with ISO‑Certified Cold‑Chain transport (8 AM – 11 PM) — sterile, painless micro‑sampling for even the youngest patients.
- Clinical Guidance: Complimentary telephonic post‑test result interpretation with a DHA‑licensed neurogenetics specialist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي: يقدم هذا الاختبار الجيني المتطور تحليلاً كاملاً لجين EEF1A2 باستخدام تقنية التسلسل عالي الإنتاجية (NGS) لتشخيص الإعاقة الذهنية الصبغية الجسدية السائدة من النوع 38، وذلك وفقاً لأحدث إرشادات هيئة الصحة بدبي لعام 2026 ومعايير الخصوصية والصحة الإتحادية.
Clinical Overview & Technology Comparison
This targeted NGS test deciphers every coding nucleotide of the EEF1A2 gene, directly identifying pathogenic variants responsible for autosomal dominant intellectual disability type 38 (MRD38). For children with unexplained developmental delay, it replaces broader, less‑sensitive chromosomal arrays with a definitive molecular answer that guides early intervention and family planning.
| Feature | Our Test – EEF1A2 NGS | Closest Alternative – Chromosomal Microarray (CMA) |
|---|---|---|
| Target Precision | Single‑gene deep sequencing with 99.9% analytical sensitivity for point mutations, indels, and splice variants. | Whole‑genome copy number variant detection; cannot detect single‑nucleotide changes or small indels in EEF1A2. |
| Methodology | Next‑Generation Sequencing (NGS) with bioinformatic filtering and Sanger confirmatory sequencing of all clinically significant variants. | Array‑based comparative genomic hybridization (aCGH) / SNP array. |
| Turnaround Time | 3 to 4 weeks from sample receipt — includes expert clinical interpretation. | 2 to 3 weeks (but often requires follow‑up single‑gene testing, delaying final diagnosis). |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA License: 61713011)
“An EEF1A2 diagnosis can feel overwhelming, but it is also the key that unlocks tailored therapies and early educational support. As a neurologist, I urge families to see this test not as a label, but as a roadmap to precise, compassionate care. Please always correlate molecular findings with a detailed clinical evaluation — genetic results are most powerful when interpreted alongside a child’s full developmental picture.”
🛑 Patient Exclusion Criteria & Emergency Red Flags
Please ensure the following conditions do NOT apply before scheduling your home collection:
- Active febrile illness or systemic infection requiring hospitalisation.
- Inability to provide informed consent — for minors, a legal guardian must be present and UAE CDS Law 2026 consent protocols apply.
- Known coagulopathy or severe thrombocytopenia that would contraindicate venipuncture (finger‑stick FTA card may still be an option — call us).
🚨 Seek Emergency Care if your child experiences:
- Acute loss of previously acquired speech or motor skills (regression).
- First‑time prolonged seizure (>5 minutes) or cluster of seizures.
- Severe behavioural changes with self‑harm or aggression.
All services comply with Federal Decree‑Law No. 41 of 2024 (Art. 87), CDS Law 2026 regarding minors, and UAE PDPL data privacy standards.
Patient FAQ & Clinical Guidance
🔹 What exactly is the EEF1A2 NGS test, and why is it ordered?
The EEF1A2 NGS test sequences the entire coding region of the EEF1A2 gene to identify pathogenic mutations causing autosomal dominant intellectual disability type 38. It is typically ordered by neurologists or clinical geneticists when a child presents with moderate to severe developmental delay, hypotonia, and autistic‑like features without an obvious chromosomal abnormality. Because the condition follows autosomal dominant inheritance, a single altered copy is sufficient to cause the disorder, and the test can also clarify recurrence risk for siblings.
س: ما هو اختبار EEF1A2 بتقنية NGS بالضبط، ولماذا يُطلَب؟
ج: يقوم اختبار EEF1A2 بتحليل كامل المنطقة المشفّرة لجين EEF1A2 للكشف عن الطفرات المرضية المسبّبة للإعاقة الذهنية الصبغية الجسدية السائدة من النوع 38. يُطلَبه أطباء الأعصاب وعلم الوراثة السريرية عند وجود تأخّر نمائي غير مفسّر ونقص توتر عضلي وسلوك شبيه بالتوحّد، لتأكيد التشخيص الجزيئي وتوجيه خطط التدخل المبكر.
🔹 Who should consider this genetic test?
Any child or adult with unexplained developmental delay, intellectual disability, and a family history consistent with autosomal dominant transmission should consider EEF1A2 testing. Primary indications include global developmental regression, absent or severely delayed speech, gait abnormalities, and seizures starting in infancy. A normal chromosomal microarray and metabolic screen in such cases raises the index of suspicion for monogenic neurodevelopmental disorders. The test is also indicated for asymptomatic parents who want to understand recurrence risk in future pregnancies.
س: من ينبغي أن يفكّر في إجراء هذا الاختبار الجيني؟
ج: أي طفل أو بالغ يعاني من تأخّر نمائي غير مفسّر وإعاقة ذهنية مع تاريخ عائلي مشتبه بالوراثة الجسدية السائده ينبغي أن يخضع لتحليل EEF1A2. كما يُنصح به في حالات التراجع النمائي والغياب الشديد للكلام والنوبات الصرعية المبكرة، خاصة بعد استبعاد الأسباب الكروموسومية والاستقلابية.
🔹 How do I prepare for the sample collection, and what sample types are accepted?
No fasting or special preparation is required for this — simply choose a convenient time for our DHA-licensed phlebotomist to visit your home. We accept whole blood (2-3 mL in EDTA tube), extracted DNA, or a single drop of blood dried on an FTA card (ideal for infants). The entire collection procedure follows UAE healthcare cold-chain standards, and samples are couriered directly to our ISO‑certified molecular laboratory for immediate processing. You will receive the result within 3 to 4 weeks, accompanied by a genetic counsellor consultation if desired.
س: كيف أستعد لأخذ العيّنة وما هي أنواع العيّنات المقبولة؟
ج: لا حاجة للصيام أو تحضيرات خاصة؛ يمكن اختيار موعد زيارة منزلية من قبل ممرّض مرخّص من هيئة الصحة بدبي. العيّنات المقبولة هي: دم كامل، حمض نووي مستخلص، أو قطرة دم على بطاقة FTA (مثالية للرضع). تُنقل العيّنات بسلسلة تبريد معتمدة وتظهر النتيجة خلال ثلاثة إلى أربعة أسابيع مع خيار استشارة وراثية.
All procedures adhere to Federal Decree‑Law No. 41 of 2024 (Article 87), CDS Law 2026 for minors, and the UAE Personal Data Protection Law. Genetic data is stored on encrypted UAE‑based servers and never shared without explicit consent.
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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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