Test Price
2,800 AED✅ Home Collection Available
ESCO2 Gene Roberts Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ESCO2 لمتلازمة روبرتس في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
الملخص التنفيذي: تحليل جيني عالي الدقة لمتلازمة روبرتس باستخدام تقنية التسلسل من الجيل التالي (NGS)، بحساسية تشخيصية تصل إلى 99.9% في مختبر حاصل على شهادة ISO 9001:2015. يتضمن خدمة سحب منزلي مجانية واستشارة هاتفية للنتائج، مع امتثال كامل لقانون المسؤولية الطبية الاتحادي رقم 41 لسنة 2024 وقانون حماية البيانات الشخصية في الإمارات.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- ✓ Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy.
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation by DHA-Licensed Counselors.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Overview
This ESCO2 Gene Roberts Syndrome Genetic Test employs Genetic Test is essential for affected children, families, and clinicians to guide early intervention, genetic counseling, and reproductive planning.
يستخدم هذا التحليل تقنية التسلسل الجيني من الجيل التالي لتحديد الطفرات المسببة لمتلازمة روبرتس، مما يساعد في التشخيص المبكر والإرشاد الوراثي وخيارات تنظيم الأسرة.
| Feature | Our Test (ESCO2 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Method | Full Gene Sequencing (NGS) | Targeted single‑variant analysis |
| Detection Range | All exonic regions, splice sites, and known deep intronic hotspots | One predefined mutation only |
| Sensitivity (SNV/indels) | >99.9% | ~99.5% (limited to known variant) |
| Turnaround Time | 3–4 Weeks | 2–4 Weeks |
| Clinical Utility | Comprehensive diagnosis, carrier testing, family screening | Only confirms previously known family variant |
Physician Insight & Safety Protocol
“As a pediatrician, I understand the profound emotional weight that comes with seeking a genetic diagnosis for your child. An ESCO2 gene test provides much‑needed clarity, but it must always be interpreted within the full picture of clinical findings and family history. A negative result does not entirely exclude the syndrome, as rare deep intronic variants or large deletions may not be captured by this method.” — Dr. PRABHAKAR REDDY, DHA License No. 61713011
⚠️ Clinical Notice: Do not discontinue any prescribed medication or therapy without consulting your managing physician. Genetic test results should always be discussed with a qualified healthcare provider before making treatment decisions.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Sample collection may be deferred if the patient has an acute febrile illness or is hemodynamically unstable; consult our team.
- Exclusion: Recent whole blood transfusion (< 2 weeks) may cause mixed chimerism, potentially interfering with germline DNA analysis.
- Red Flag – ER Visit: If the child develops severe respiratory distress, cyanosis, uncontrolled seizures, or signs of sepsis, seek immediate emergency care before proceeding with the test.
Patient FAQ & Clinical Guidance
1. What is the ESCO2 Gene Roberts Syndrome NGS Test used for?
Snippet: It identifies ESCO2 gene mutations responsible for Roberts syndrome, enabling accurate diagnosis and family risk assessment.
This next-generation sequencing test analyzes the entire coding region of the ESCO2 gene to detect pathogenic variants linked to Roberts syndrome, a rare autosomal recessive disorder. The result helps clinicians confirm the diagnosis, differentiate from other dysmorphologic conditions, provide recurrence risk for family members, and plan appropriate medical and surgical management. Genetic counseling before and after testing is strongly recommended to interpret the implications fully.
السؤال بالعربية: ما هو استخدام فحص جين ESCO2 لمتلازمة روبرتس؟
يكشف الطفرات الجينية المسببة لمتلازمة روبرتس، مما يسمح بتشخيص دقيق وتقييم المخاطر العائلية. يُستخدم التحليل لتأكيد المتلازمة لدى الأطفال الذين يُظهرون تشوهات خلقية في الأطراف والوجه، ولتقديم إرشاد وراثي شامل للعائلة.
2. How is the sample collected for this genetic?
Snippet: Blood sample, extracted DNA, or blood spot on FTA card collected by home phlebotomy team for genetic analysis.
We offer multiple sample options: a standard venipuncture whole blood draw (3–5 mL in EDTA tube), previously extracted DNA, or a simple finger‑stick drop of blood dried on an FTA card. Our VIP home‑collection service operates from 8 AM to 11 PM, using cold‑chain logistics to maintain DNA integrity. The collection is performed by DHA‑licensed phlebotomists and is virtually painless for children. After collection, the sample is transported to our ISO‑certified laboratory immediately.
السؤال بالعربية: كيف تُجمع العينة لهذا الفحص الجيني؟
تُجمع عينة دم وريدي أو حمض نووي مستخلص أو قطرة دم على بطاقة FTA بواسطة فريق سحب منزلي معتمد، مع الحفاظ على سلسلة تبريد مثالية. الخدمة متاحة من الثامنة صباحاً حتى الحادية عشرة ليلاً وتحت إشراف هيئة الصحة بدبي.
3. Does a positive result mean my child will have severe symptoms?
Snippet: Positive result confirms genetic diagnosis, but symptom severity varies; genetic counseling provides detailed prognosis and management guidance.
A positive ESCO2 mutation confirms the underlying genetic cause of Roberts syndrome, but the clinical spectrum ranges from severe phocomelia and early lethality to milder limb reduction defects and facial dysmorphism without intellectual disability. Multiple factors, including the type of mutation and epigenetic modifiers, influence severity. Your genetic counselor will correlate the specific variant with published outcomes and help you understand the likely trajectory, as well as coordinate care with neonatology, orthopedics, and craniofacial specialists.
السؤال بالعربية: هل النتيجة الإيجابية تعني أن طفلي سيعاني من أعراض شديدة؟
تؤكد النتيجة الإيجابية التشخيص الجيني، لكن شدة الأعراض تختلف بشكل كبير بين المصابين؛ لذا يوفر المستشار الوراثي تقديراً دقيقاً للمآل وخطة إدارة شاملة بناءً على نوع الطفرة والحالات المسجلة.
UAE Regulatory & Quality Compliance
- ✔ Federal Decree-Law No. 41 of 2024 (Art. 87) – Genetic Testing & Medical Liability
- ✔ UAE Child Rights Law (Wadeema’s Law) & CDS 2026 (Minors Protection)
- ✔ UAE Personal Data Protection Law (PDPL) – Full Data Privacy
- ✔ Laboratory Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
- ✔ Facility License No. 9834453 – DHA/MOHAP Approved
For Insurance Verification, Home Collection Booking, or Clinical Inquiries:
WhatsApp / Call: +971 54 548 8731
Service Hours: 8 AM – 11 PM (UAE Time), 7 Days a Week
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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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians