Test Price
2,800 AED✅ Home Collection Available
ARID1A Gene Sequencing (Mental Retardation, Autosomal Dominant Type 14) Genetic Test — 2,800 AED
Executive Summary & Core Metrics
The ARID1A Gene Sequencing test provides definitive molecular diagnosis of autosomal dominant mental retardation type 14 (Coffin-Siris syndrome) by targeting the full coding region of the ARID1A gene. The assay delivers >99.9% analytical sensitivity for single nucleotide variants and small insertions/deletions, is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), and is performed at DNA Labs UAE, a DHA-licensed facility (License No. 1143). Results are typically available within 3–4 weeks and include mandatory post-test genetic counselling by a Consultant Medical Genetics specialist.
99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Lab
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM)
Post-Test Teleconsultation with Consultant Medical Genetics
Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The ARID1A Gene Sequencing test employs targeted next-generation sequencing (NGS) to analyse all coding exons and exon-intron boundaries of the ARID1A gene. Pathogenic variants in this gene are causative for autosomal dominant intellectual disability type 14 (Coffin-Siris syndrome), a neurodevelopmental disorder characterised by intellectual disability, distinctive craniofacial features, and variable systemic involvement including cardiac, renal, and gastrointestinal anomalies. Definitive molecular confirmation enables personalised surveillance planning, recurrence risk assessment, and informed family counselling.
| Parameter | ARID1A Gene Sequencing | Whole Exome Sequencing |
|---|---|---|
| Precision | >99.9% analytical sensitivity for SNVs/indels in ARID1A | ~95–98% sensitivity; may miss deep intronic or regulatory variants |
| Method | Targeted NGS (full gene, exon-level) | Whole exome NGS |
| Turnaround Time | 3–4 weeks | 5–6 weeks |
| Cost | 2,800 AED | 4,500 – 6,000 AED |
Physician Insight & Safety Protocols
“A positive ARID1A result provides a definitive molecular diagnosis for a lifelong neurodevelopmental syndrome, enabling early intervention, targeted surveillance for associated organ anomalies, and precise recurrence risk counselling for families. However, a negative result does not exclude other genetic aetiologies; all findings must be interpreted alongside a comprehensive clinical evaluation by a paediatric neurologist or clinical geneticist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Important Advisory
Do not discontinue any prescribed medications without prior consultation with your treating physician. Genetic testing results do not alter acute management of seizures, behavioural symptoms, or other urgent medical conditions. Continue all current therapies and follow-up appointments as scheduled.
Safety & Exclusion Criteria
- Informed consent must be provided by the patient or legal guardian; for minors, documented guardian approval is required per UAE Child Rights Law (Wadeema).
- Absolute contraindication: active severe infection or haemodynamic instability precluding safe venipuncture.
- Postpone testing if a blood transfusion occurred within the past 14 days, as donor DNA may interfere with accurate variant detection.
- Emergency Red Flags: Acute loss of developmental milestones, new-onset seizures, persistent vomiting, lethargy, or bulging fontanelle in infants — these require immediate emergency medical evaluation before elective genetic testing.
Patient FAQ & Clinical Guidance
1. What does the ARID1A gene test diagnose?
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 such as cardiac and renal involvement, and informs recurrence risk for future pregnancies.
2. How is the sample collected and what is the process?
A certified phlebotomist collects a peripheral whole blood sample (3–5 mL in an EDTA tube) during a scheduled home visit via our VIP Mobile Phlebotomy service. Alternatively, extracted DNA or a dried blood spot on an FTA card may be submitted. The specimen is transported under ISO cold-chain conditions to the laboratory. Testing takes 3–4 weeks, and results are released only after a mandatory teleconsultation with a Consultant Medical Genetics specialist.
3. What should I expect from the results and what is the next step?
The report will clearly indicate whether a disease-causing (pathogenic) ARID1A variant was identified, providing a definitive molecular explanation for the patient’s intellectual disability. If positive, a post-test teleconsultation with a Consultant Medical Genetics specialist is arranged to discuss prognosis, targeted therapies, and family screening. If negative, further genetic workup such as whole exome sequencing may be recommended.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE complies fully with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the collection, processing, storage, and transfer of personal health data, and with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields which mandates secure digital health information systems. Clinical laboratory practices adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety, informed consent, and professional accountability throughout the testing pathway.
Clinical & Logistical Metadata
| Test Name | ARID1A Gene Sequencing (Mental Retardation, Autosomal Dominant Type 14) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL EDTA tube) — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) — full coding exons & exon-intron boundaries |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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