Test Price
2,800 AED✅ Home Collection Available
ARID1A Gene Sequencing (Mental Retardation, Autosomal Dominant Type 14) Genetic Test
2,800 AED · 2026 DHA Guidelines
تحليل تسلسل جين ARID1A المرتبط بالإعاقة الذهنية الجسدية السائدة النوع 14 في الإمارات | 2,800 درهم | معتمد من هيئة الصحة بدبي 2026
الملخص التنفيذي: يقدم هذا التحليل الجيني بتقنية التسلسل المتقدم تشخيصًا قاطعًا لطفرة جين ARID1A المسؤولة عن الإعاقة الذهنية الوراثية الجسدية السائدة (النمط 14)، بحساسية تشخيصية تصل إلى 99.9% وفق معايير الجودة الدولية، مع خدمة سحب منزلية آمنة ومعتمدة، وإرشاد طبي عن بُعد بعد النتيجة.
99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Lab (Cert: INT/EGQ/2509DA/3139)
Hospital-Grade Home Collection (8 AM – 11 PM) · ISO Cold-Chain Transport · VIP Mobile Phlebotomy
Telephonic Post-Test Clinical Interpretation with a Specialist Genetic Counsellor
Direct Billing Verification via WhatsApp +971 54 548 8731
Overview
The ARID1A Genetic Test targets the entire coding region of the ARID1A gene to identify pathogenic variants responsible for autosomal dominant mental retardation type 14 (Coffin-Siris syndrome). This analysis provides definitive molecular confirmation for patients with intellectual disability, distinctive facial features, and developmental delay.
يستهدف اختبار ARID1A الجيني كامل المنطقة المشفّرة للجين لكشف الطفرات الممرضة المسببة للإعاقة الذهنية الوراثية الجسدية السائدة النوع 14 (متلازمة كوفين-سيريس)، مما يوفّر تأكيدًا جزيئيًا دقيقًا للتشخيص السريري.
| Parameter | Our Test – ARID1A Sequencing | Closest Alternative – Whole Exome |
|---|---|---|
| Precision | >99.9% analytical sensitivity for SNVs/indels, validated for ARID1A | ~95-98% sensitivity; may miss deep intronic variants |
| Method | Targeted NGS (full gene, exon-level) | Whole Exome Sequencing (NGS) |
| Turnaround Time | 3 – 4 weeks | 5 – 6 weeks |
| Cost | 2,800 AED | 4,500 – 6,000 AED |
Physician Insight & Safety Protocol
“As a DHA-licensed neurologist, I emphasize that a positive ARID1A result confirms a lifelong neurodevelopmental syndrome, allowing early intervention and family planning. However, a negative report does not exclude other genetic causes, and all findings must be interpreted in the context of a comprehensive clinical evaluation by a pediatric neurologist or clinical geneticist.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠️ Important Medication Notice:
Do not discontinue prescribed medication without consulting your doctor. Genetic testing does not alter acute management of seizures or behavioral symptoms.
Safety & Exclusion Criteria
- Patient must provide informed consent through a legal guardian; minors require documented guardian approval per UAE Child Rights Law (Wadeema).
- Absolute contraindication: active severe infection or haemodynamic instability that precludes safe blood draw.
- Postpone test if a recent blood transfusion (<14 days) could interfere with DNA extraction.
- ER Red Flags: If the individual develops acute loss of developmental milestones, new-onset seizures, or signs of raised intracranial pressure (persistent vomiting, lethargy, bulging fontanelle in infants), seek emergency medical evaluation before elective genetic testing.
Patient FAQ & Clinical Guidance
1. What does the ARID1A gene test diagnose?
1. ما الذي يشخصه اختبار جين ARID1A؟ Snippet: The ARID1A NGS test definitively diagnoses autosomal dominant mental retardation type 14 (Coffin-Siris syndrome) by detecting pathogenic mutations across all coding exons of the ARID1A gene. This genetic confirmation guides surveillance for associated anomalies (cardiac, renal) and informs recurrence risk for future pregnancies.
2. How is the sample collected and what is the process?
2. كيف يتم جمع العينة وما هي الإجراءات؟ Snippet: A certified phlebotomist collects a blood sample (3–5 mL in EDTA tube) during a scheduled home visit, or you may provide extracted DNA or a dried blood spot on an FTA card. The sample is transported under ISO cold-chain conditions, and testing takes 3–4 weeks; results are released only after a mandatory genetic counselling session.
3. What should I expect from the results and what is the next step?
3. ماذا أتوقع من النتائج وما هي الخطوة التالية؟ Snippet: Results will clearly indicate whether a disease-causing (pathogenic) ARID1A variant was found, providing a concrete molecular explanation for the patient’s intellectual disability. If positive, we arrange a post- teleconsultation with a clinical geneticist to discuss prognosis, targeted therapies, and family screening; if negative, further genetic workup (e.g., whole exome) may be recommended.
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