Test Price
2,800 AED✅ Home Collection Available
ARID1B Gene Sequencing (NGS) – Autosomal Dominant Intellectual Disability Type 12 | 2800 AED | 2026 DHA Guidelines
تحليل تسلسل جين ARID1B في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي 2026
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 Accredited NGS Processing. Every variant call verified through orthogonal confirmation.
- ✓ Premium Logistics: Hospital-Grade Home Collection via ISO-Certified Cold-Chain Transport. VIP Mobile Phlebotomy available 8 AM – 11 PM across all Emirates.
- ✓ Clinical Guidance: Complimentary Telephonic Post-Test Clinical Correlation session with a certified genetic counsellor to interpret your ARID1B report.
- ✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731. Pre-approval confirmed within 2 hours.
الملخص التنفيذي
فحص تسلسل كامل لجين ARID1B باستخدام تقنية الجيل التالي المتطورة (NGS) لتشخيص الإعاقة الذهنية الصبغية الجسدية السائدة من النوع الثاني عشر ومتلازمة كوفين-سيريس. يُجرى التحليل في مختبر معتمد من هيئة الصحة بدبي وفق معيار ISO 15189:2022، مع استشارة وراثية شاملة قبل وبعد الفحص لضمان الفهم الدقيق للنتائج وتوجيه خطة الرعاية السريرية.
Clinical Overview
The ARID1B Gene Sequencing Test (NGS) is a comprehensive next-generation sequencing assay that analyzes the entire coding region of the ARID1B gene (AT-Rich Interaction Domain 1B) on chromosome 6q25.3. Pathogenic variants in this gene are the leading cause of Autosomal Dominant Intellectual Disability Type 12 and Coffin-Siris Syndrome 1, characterized by developmental delay, distinctive facial dysmorphism, hypoplastic fifth digits, and speech impairment. This test delivers definitive molecular confirmation for affected individuals and enables accurate family cascade screening.
يُعد تحليل جين ARID1B أداة تشخيصية جزيئية دقيقة لتأكيد الإعاقة الذهنية الوراثية السائدة، ويوفر معلومات حاسمة لتخطيط التدخل المبكر وتقدير المخاطر الوراثية للعائلة.
| Parameter | Our ARID1B NGS Test | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Precision | 99.9% Analytical Sensitivity; full gene coverage including intron-exon boundaries | ~95% detection rate; limited to known hotspot regions only |
| Methodology | Next-Generation Sequencing (Illumina NovaSeq X Plus) with CNV analysis | Sanger Sequencing – cannot detect exon-level deletions/duplications |
| Turnaround Time | 3 to 4 Weeks (expedited 2-week option available) | 6 to 8 Weeks standard turnaround |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY DHA License: 61713011
"The ARID1B gene test provides molecular clarity when clinical features alone cannot distinguish between overlapping neurodevelopmental syndromes. I strongly emphasize that a positive result should be interpreted within the full clinical context — including developmental history, dysmorphology assessment, and family pedigree — before finalizing management plans. A negative result does not exclude all genetic causes, and further evaluation may be warranted depending on the clinical presentation."
⚠ Important Clinical Advisory
Do not discontinue any prescribed medication, including anti-epileptics, neuroleptics, or developmental support therapies, without consulting your treating physician. This genetic test is diagnostic in nature and does not replace ongoing clinical management or therapeutic interventions.
🛡 Patient Safety: Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Home Collection:
- Patient currently admitted to any hospital or ICU
- Active febrile illness with temperature ≥ 38.5°C
- Recent blood transfusion (within 72 hours) – may affect extracted DNA quality
- Known coagulopathy or active bleeding disorder without prior physician clearance
- Patient under 2 years of age without paediatric phlebotomy consent
Emergency Red Flags – Seek Immediate Medical Attention:
- New-onset seizures or status epilepticus
- Acute loss of developmental milestones
- Respiratory distress or aspiration events
- Loss of consciousness or unexplained lethargy
- Severe behavioural regression with self-injurious behaviour
This test is a diagnostic investigation. It does not constitute emergency medical advice. If you are experiencing a medical emergency, call 998 (UAE Ambulance) or visit your nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What does the ARID1B gene test diagnose, and how accurate is it?
The ARID1B NGS test provides definitive molecular diagnosis of Autosomal Dominant Intellectual Disability Type 12 and Coffin-Siris Syndrome 1 with 99.9% analytical sensitivity. This comprehensive sequencing assay detects single nucleotide variants, small insertions/deletions, and copy number variations across all coding exons of the ARID1B gene. Clinical correlation by a neurologist or clinical geneticist is essential to interpret the pathogenic significance of identified variants in the context of the patient's developmental phenotype.
2. How is the sample collected, and what preparation is required?
Sample collection requires a simple venous blood draw (3-5 mL in EDTA tube), a dried blood spot on FTA card, or extracted DNA submitted by a referring laboratory. A pre-test genetic counselling session is mandatory to document a comprehensive three-generation pedigree chart identifying all family members affected with intellectual disability or developmental delay. No fasting is required. Patients must inform the phlebotomist of all current medications, including anti-epileptic drugs and nutritional supplements, prior to collection.
3. How long do results take, and how will I receive them?
Your complete ARID1B gene sequencing report is delivered within 3 to 4 weeks via encrypted electronic medical record, with an optional telephonic post-test genetic counselling session included. Expedited processing (2 weeks) is available upon request for urgent clinical scenarios, such as pending neurosurgical intervention or acute inpatient diagnostic workup. Reports include variant classification per ACMG/AMP 2026 guidelines, clinical correlation recommendations, and guidance for cascade family testing where indicated.
السؤال بالعربية:
كم تستغرق نتيجة تحليل جين ARID1B وكيف أستلم التقرير؟
الجواب: تُسلّم نتائج تحليل تسلسل جين ARID1B خلال 3 إلى 4 أسابيع عبر السجل الطبي الإلكتروني المشفر، مع جلسة استشارة وراثية هاتفية مجانية بعد صدور التقرير لتفسير النتائج وتوجيه خطة المتابعة السريرية للعائلة.
Pre-Test Requirements & Logistics
- 📋 Mandatory Pre- Genetic Counselling: A certified genetic counsellor will conduct a session to document clinical history and construct a detailed pedigree chart of family members affected with intellectual disability or features suggestive of Coffin-Siris syndrome.
- 💉 Accepted Sample Types: Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card. Dried blood spot cards are suitable for paediatric patients where venipuncture is challenging.
- 🚫 Medication & Supplement Advisory: Inform the laboratory of all current medications, including anti-epileptics (valproate, levetiracetam, lamotrigine), neuroleptics, melatonin supplements, and any investigational therapies. No routine discontinuation is required for genetic testing.
- 🔬 Methodology: Next-Generation Sequencing (NGS) on Illumina NovaSeq X Plus platform with ≥100x mean read depth, covering all coding exons ±20 bp intronic boundaries. CNV analysis included. Variants classified per ACMG/AMP 2026 guidelines.
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