Test Price
2,800 AED✅ Home Collection Available
SMARCA4-Related Intellectual Disability (MRD16) Genetic Test in UAE | 2800 AED | DHA-Regulated
Executive Summary & Core Metrics
Executive Summary: This DHA-regulated genetic test provides definitive diagnosis of SMARCA4-associated autosomal dominant intellectual disability type 16 (MRD16) with 99.9% diagnostic sensitivity via ISO-certified NGS. Price includes VIP mobile phlebotomy and temperature-controlled cold-chain home collection (available daily from 8 AM to 11 PM) and a telephonic post-test clinical guidance call. Insurance billing verification via WhatsApp +971545488731.
Test Overview & Methodology
The SMARCA4 gene encodes a chromatin remodeler; pathogenic variants cause autosomal dominant intellectual disability (MRD16) with variable neurological features. This NGS test sequences the full coding region of SMARCA4 to detect single nucleotide variants, small indels, and copy number variations, offering a molecular diagnosis essential for management and genetic counselling.
| Parameter | Our Test – DHA Lab (ISO 9001) | Closest Alternative – Local Hospital Panel |
|---|---|---|
| Technology | Next Generation Sequencing (NGS) – High Coverage | Sanger sequencing (limited to known hotspots) |
| Variant Detection | SNVs, Indels, CNVs (deletion/duplication) | Only SNVs in selected exons |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Price / Inclusion | 2800 AED – Home Collection & Clinical Guidance | 3200 AED – In-Clinic Only |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that a positive SMARCA4 variant alone does not determine functional prognosis; the result must be correlated with detailed neurodevelopmental evaluation and family history. A negative result reduces risk but cannot exclude other genetic causes; always consider referral for broader exome analysis if clinical suspicion persists.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Medication Advisory
⚠️ Medication Advisory
Do not discontinue or adjust any prescribed medication (antiepileptics, psychotropics) without consulting your physician. This test provides genetic information, not acute medical management.
Safety Exclusion Criteria & Emergency Red Flags
- Unstable medical condition requiring hospitalization – postpone collection.
- Severe bleeding disorder or anticoagulant therapy beyond INR 3.0 – require medical clearance.
- In case of sudden onset of seizures, loss of consciousness, or severe developmental regression, seek emergency care immediately; genetic testing is not a substitute for acute evaluation.
Patient FAQ & Clinical Guidance
1. What does a positive SMARCA4 mutation mean for my child?
A positive result identifies a disease-causing variant in the SMARCA4 gene that confirms the genetic cause of your child’s intellectual disability, guiding tailored therapies and family planning.
2. How accurate is this NGS compared to older methods?
Our NGS assay achieves >99.9% analytical sensitivity for single nucleotide variants and can detect copy number changes that Sanger sequencing often misses, providing a comprehensive molecular diagnosis.
3. Is home blood collection safe and approved in the UAE?
Yes, our service is licensed by DHA/MOHAP, operates under ISO 9001:2015 cold-chain protocols, and uses certified pediatric-trained phlebotomists for painless sample collection.
UAE Regulatory & Data Privacy Adherence
All genetic data generated by this test is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic information is encrypted, access-restricted, and never shared without explicit written consent.
Clinical & Logistical Metadata
| Test Name | SMARCA4-Related Intellectual Disability (MRD16) Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily 8 AM–11 PM) |
| Methodology Used | Next Generation Sequencing (NGS) – Full coding region, high coverage, SNV/Indel/CNV detection |
| ICD-10-CM Code | F78 (Other intellectual disability), Q87.8 (Other specified congenital malformation syndromes) |
| LOINC Code | 81247-9 (SMARCA4 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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