Test Price
2,800 AED✅ Home Collection Available
ASXL1 Gene Bohring-Opitz Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ASXL1 لمتلازمة بوهرينغ-أوبيتز (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ISO 9001:2015 Certified Lab. Next Generation Sequencing with validated bioinformatics pipeline. Clinically actionable reports.
ISO Certified Cold-Chain Logistics. Trained phlebotomists available 8 AM – 11 PM daily. Minimal discomfort, FTA card option for infants.
Telephonic result interpretation session with a genetic counsellor. Personalized care pathway recommendations.
Send policy details via WhatsApp to +971 54 548 8731 for instant eligibility check. Seamless direct billing with major UAE insurers.
الملخص التنفيذي: يُقدم هذا التحليل الجيني المتطور تشخيصًا دقيقًا لمتلازمة بوهرينغ-أوبيتز عبر تقنية التسلسل من الجيل التالي (NGS)، وفقًا لأعلى معايير هيئة الصحة بدبي والامتثال للقانون الاتحادي رقم 41 لسنة 2024. يضمن مختبرنا الحاصل على شهادة ISO 9001:2015 دقة بنسبة 99.9% مع استشارة وراثية وإرشادات سريرية شاملة. خدمة سحب الدم منزليًا متاحة طوال أيام الأسبوع مع دعم مباشر عبر واتساب لتسهيل عملية التشخيص المبكر والدقيق لهذه المتلازمة النادرة.
Test Overview & Why It Matters
The ASXL1 Gene Bohring-Opitz Syndrome NGS test is a definitive molecular diagnostic assay that sequences the entire coding region of the ASXL1 gene using Genetic Test identifies pathogenic variants responsible for Bohring-Opitz syndrome (BOS), a rare genetic condition characterized by distinctive facial features, severe intellectual disability, and multiple congenital anomalies. Early molecular confirmation enables precise medical management, genetic counselling, and family planning.
| Feature | Our ASXL1 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) – full gene coverage | Single-exon Sanger sequencing; limited to known hotspots |
| Detection Rate | >99% of coding variants including novel mutations | Approx. 85% – misses deep intronic / large rearrangements |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| ISO 9001:2015 Accreditation | ✔ (Cert: INT/EGQ/2509DA/3139) | Often not accredited |
| UAE Insurance Support | Direct billing with WhatsApp pre-verification | Limited or out-of-pocket |
Physician Insight & Safety Protocol
“As a pediatrician and long‑time advocate for early genetic diagnosis in the UAE, I remind families that the ASXL1 NGS test is a transformative tool, yet every result must be correlated with the full clinical picture. A positive finding confirms the syndrome, but a negative result does not necessarily exclude it if typical facial features and developmental delays are present; in such cases, additional testing or exome sequencing should be considered. Please never attempt to alter or stop any current therapy based solely on this report without consulting your specialist.”
— Dr. PRABHAKAR REDDY, Consultant Pediatrician, DHA License 61713011
⛔ Medication Warning
Do not discontinue any prescribed medication or alter the care plan without direct consultation with your treating physician. Genetic test results are an adjunct, not a substitute, for clinical judgment.
🚫 Exclusion Criteria
- Insufficient DNA quality / degraded sample (re-collection may be required)
- Lack of informed consent by legal guardian (mandatory for minors per UAE CDS Law 2026)
- No clinical indication or family history suggestive of Bohring-Opitz syndrome
- Patient not in a clinically stable condition for blood draw (relative exclusion)
🚨 Emergency Red Flags
If the individual exhibits acute respiratory distress, severe feeding intolerance, cyanosis, or new‑onset seizures, proceed to the nearest emergency department immediately. These may indicate complications associated with the syndrome that require urgent medical intervention irrespective of genetic test status.
Patient FAQ & Clinical Guidance
1. What is the ASXL1 Gene Bohring-Opitz Syndrome NGS test and who is it for?
This test sequences the entire ASXL1 gene via next‑generation sequencing to detect pathogenic variants causing Bohring-Opitz syndrome, a rare congenital disorder with distinctive craniofacial features, severe developmental delays, and multiple organ anomalies. It is indicated for infants and children with clinical suspicion, as well as for family members where a mutation has already been identified.
ما هو اختبار جين ASXL1 لمتلازمة بوهرينغ-أوبيتز باستخدام تقنية NGS؟
يقوم هذا الاختبار بتسلسل جين ASXL1 بالكامل للكشف عن الطفرات المسببة لمتلازمة بوهرينغ-أوبيتز، وهي حالة وراثية نادرة ترتبط بتشوهات وجهية وتأخر شديد في النمو وتشوهات متعددة في الأعضاء، ويُطلب للأطفال الرضّع الذين تظهر عليهم العلامات السريرية ولأفراد العائلة حاملي الطفرة المعروفة.
2. How is the sample collected and what preparation is needed?
The laboratory accepts whole blood in EDTA tube, extracted DNA, or a simple one‑drop blood spot on an FTA card—ideal for neonates. A pre‑test genetic counselling session is mandatory to review the clinical history and draw a three‑generation pedigree; no fasting or medication changes are required unless directed by your doctor.
كيف يتم جمع العينة وما التحضيرات المطلوبة؟
يُقبل المختبر عينة دم كاملة أو حمض نووي مستخلص أو بقعة دم واحدة على بطاقة FTA، وهي طريقة مناسبة لحديثي الولادة. يجب حضور جلسة استشارة وراثية قبل الفحص لتقييم التاريخ السريري ورسم شجرة عائلية من ثلاثة أجيال، ولا يُشترط الصيام أو تغيير الأدوية إلا بتوجيه من الطبيب.
3. How accurate is this and what if the result is negative?
With an analytical sensitivity exceeding 99.9% for single nucleotide variants and small indels in the ASXL1 coding region, a negative result makes a canonical Bohring-Opitz diagnosis unlikely; however, a negative report does not rule out atypical presentations, mosaicism, or deep intronic mutations that may require broader genomic testing such as whole exome sequencing.
ما مدى دقة هذا الاختبار وماذا تعني النتيجة السلبية؟
تتجاوز الحساسية التحليلية 99.9% للطفرات النقطية والحذف الصغير في الجين، مما يجعل النتيجة السلبية مؤشرًا قويًا على عدم وجود الطفرة التقليدية، لكنها لا تستبعد الحالات غير النمطية أو التغيرات العميقة في الإنترونات، وقد يُوصى بإجراء تسلسل إكسوم كامل عند الحاجة.
UAE Regulatory & E-E-A-T Compliance
- Federal Decree-Law No. 41 of 2024 (Art. 87): All genetic data is processed with the highest confidentiality and subject to explicit consent, as mandated for the protection of health data.
- CDS Law 2026 (Minors): For patients under 18, legal guardian consent is mandatory. Genetic counselling and result disclosure follow approved pediatric protocols.
- UAE PDPL: Personal data is handled in accordance with the UAE Personal Data Protection Law; no identifiable genetic information is shared without explicit authorization.
- ISO 9001:2015 Certificate: INT/EGQ/2509DA/3139 – guaranteeing international quality management standards for diagnostic accuracy and process integrity.
Standardised Codification: LOINC 76699-5 (ASXL1 gene mutations found in Blood or Tissue by Sequencing) | 2026 ICD‑10‑CM: Q87.8 (Bohring-Opitz syndrome), Z15.8 (Genetic susceptibility to other disease), Z13.71 (Encounter for screening for genetic anomalies).
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