Test Price
2,800 AED✅ Home Collection Available
EP300 Gene Rubinstein-Taybi Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين EP300 لمتلازمة روبنشتاين-طيبي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ضمان الدقة: حساسية تشخيصية بنسبة 99.9% عبر معالجة معتمدة من ISO.
الخدمات اللوجستية الممتازة: خدمة جمع منزلي بجودة المستشفيات عبر سلسلة تبريد معتمدة من ISO وجمع دم متنقل VIP.
الإرشاد السريري: استشارة طبية هاتفية بعد الاختبار لتفسير النتائج.
التأمين: التحقق المباشر من التغطية التأمينية عبر واتساب +971 54 548 8731.
Overview
The EP300 gene NGS test detects pathogenic variants associated with Rubinstein-Taybi syndrome (RTS), a rare congenital disorder marked by broad thumbs, distinctive facies, and intellectual disability. This advanced next‑generation sequencing assay provides definitive molecular confirmation, guiding personalized care and genetic counseling for families in the UAE.
يكشف اختبار الجين EP300 بتقنية التسلسل الجيني المتقدم عن الطفرات المرتبطة بمتلازمة روبنشتاين-طيبي، مما يوفر تشخيصًا دقيقًا ويدعم الاستشارة الوراثية والتخطيط العلاجي.
| Feature | Our EP300 NGS Test | Closest Alternative (Sanger / Exome) |
|---|---|---|
| Precision | ≥99.9% single‑nucleotide variant detection with copy‑number analysis | Limited to known mutations or incidental findings; may miss deep intronic variants |
| Methodology | Next‑Generation Sequencing (Illumina® platform, full EP300 gene coverage) | Sanger sequencing of select exons or whole‑exome with limited coverage uniformity |
| Turnaround Time | 3 – 4 Weeks | 4 – 8 Weeks (Sanger) / 8 – 12 Weeks (Exome) |
| Price | 2800 AED | Varies; often higher with additional sequencing and interpretation fees |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY, DHA License 61713011: “Genetic testing for the EP300 gene is a powerful tool in diagnosing Rubinstein-Taybi syndrome; however, I always remind families that the result must be correlated with clinical findings and a thorough genetic counselling session. Please keep all current medications unchanged—do not stop any prescribed drug without consulting your doctor. If concerning new symptoms appear, seek urgent medical attention.”
⚠ Medication Safety Reminder
Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusion Criteria & Emergency Red Flags
- New‑onset fever or signs of acute infection at the time of sample collection.
- Severe anemia or bleeding disorder that contraindicates routine venipuncture.
- Uncontrolled seizure episode within the last 24 hours (re‑schedule after stabilization).
- Refusal or inability to provide informed consent (the test is not for emergency diagnosis).
Seek emergency care immediately if the patient experiences:
- Difficulty breathing or severe respiratory distress.
- Sudden neurological deterioration, loss of consciousness, or intractable seizures.
- Signs of severe infection (high fever, lethargy, photophobia).
Pre‑Test Requirements
A comprehensive clinical history of the patient, including documentation of dysmorphic features and developmental milestones, is mandatory. A genetic counselling session must be completed to draw a detailed pedigree chart of family members affected by EP300‑related Rubinstein‑Taybi syndrome. Acceptable sample types: Whole blood (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Home collection by our ISO‑certified cold‑chain logistics team is available between 8 AM and 11 PM across the UAE.
Patient FAQ & Clinical Guidance
What is the EP300 gene NGS test used for?
The EP300 gene NGS test identifies pathogenic mutations causing Rubinstein‑Taybi syndrome, a rare multisystem disorder characterized by distinctive facial features, broad thumbs, and intellectual disability.
يحدد اختبار الـ EP300 بتقنية التسلسل الجيني المتقدم الطفرات المسببة لمتلازمة روبنشتاين-طيبي، وهو اضطراب نادر متعدد الأجهزة يتميز بملامح وجهية مميزة وإبهامين عريضين وإعاقة ذهنية.
How is the sample collected for this?
A simple blood draw (or DNA extraction from saliva) is performed by our ISO‑certified home collection team; an FTA card can also be used for convenient transport.
يتم سحب عينة دم بسيطة (أو استخراج الحمض النووي من اللعاب) بواسطة فريقنا المنزلي المعتمد من ISO؛ كما يمكن استخدام بطاقة FTA للنقل المريح.
How long do results take?
Results are typically ready within 3 to 4 weeks, as comprehensive NGS analysis and expert interpretation require rigorous quality control and clinical validation.
تصبح النتائج جاهزة عادةً خلال 3 إلى 4 أسابيع، حيث يتطلب تحليل الـ NGS الشامل والتفسير الخبير رقابة جودة صارمة وتحققًا سريريًا.
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