Test Price
2,800 AED✅ Home Collection Available
CC2D1A Gene Sequencing (Autosomal Recessive Intellectual Disability Type 3, MRT3) – 2,800 AED
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing.
Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across Dubai, Abu Dhabi, Sharjah, and the Northern Emirates.
Clinical Guidance: Telephonic post-test counselling with a DHA-licensed consultant medical geneticist. Full result interpretation included.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
DHA Facility License: 1143 | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
Test Overview & Methodology
The CC2D1A gene (Coiled-coil and C2 domain containing 1A) sequencing test identifies pathogenic variants responsible for autosomal recessive intellectual disability type 3 (MRT3), a severe neurodevelopmental disorder characterized by moderate-to-severe intellectual disability, absent speech, and distinctive dysmorphic features. Next-generation sequencing (NGS) on the Illumina NovaSeq platform provides full coverage of all coding exons and splice junctions, enabling detection of single nucleotide variants, small insertions, and deletions with >99.9% analytical sensitivity.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Diagnostic Precision | 99.9% Analytical Sensitivity (NGS) | MRI / Clinical Evaluation – Non-specific |
| Methodology | Illumina NovaSeq NGS with full gene coverage | Sanger Sequencing (limited to known hotspot) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
"Detection of a pathogenic CC2D1A variant confirms a monogenic aetiology for the neurodevelopmental phenotype; however, careful correlation with clinical milestones, dysmorphology examination, and family segregation studies is essential. This test should always be embedded within a comprehensive genetic counselling framework. A negative sequencing result does not exclude other genetic or acquired causes of intellectual disability."
Advisory – Medication and Clinical Management
Important Clinical Advisory: Do not discontinue or alter any prescribed medications without consulting your treating physician. This genetic test does not replace ongoing medical monitoring or management of neurological, psychiatric, or metabolic conditions. All clinical decisions must be made by your healthcare team based on the full clinical context.
Exclusion Criteria and Emergency Red Flags
Exclusion Criteria
- Uncorrected coagulopathy or bleeding disorder contraindicating venipuncture.
- Inability to provide informed consent; legal guardian consent required for minors and protected adults.
- Acute febrile illness, systemic infection, or medical instability requiring urgent care.
Emergency Red Flags
- New-onset seizures, loss of consciousness, or acute regression in cognitive or motor function – seek emergency medical attention immediately.
- Any sudden change in behaviour, self-injury, or inability to maintain basic airway or feeding safety.
Safety and consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of the CC2D1A NGS test for MRT3?
The test achieves more than 99.9% analytical sensitivity and specificity for detecting single nucleotide variants and small insertions or deletions across all coding exons of the CC2D1A gene. Clinical sensitivity depends on the genetic heterogeneity of intellectual disability; a negative result does not exclude other genetic causes.
2. What sample types are accepted and how is home collection arranged in the UAE?
We accept whole blood (EDTA tube), extracted genomic DNA, or a finger-prick blood spot on an FTA card. Our VIP mobile phlebotomy team operates daily from 8 AM to 11 PM across Dubai, Abu Dhabi, Sharjah, and the Northern Emirates, using temperature-controlled cold-chain transport to preserve sample integrity.
3. Is this test covered by health insurance and what does the 2,800 AED fee include?
The price covers pre-test genetic counselling, sample collection logistics, NGS library preparation and sequencing, bioinformatic analysis, and a comprehensive clinical report. Direct billing to major UAE insurers can be verified via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
Data Protection and Health Information Governance
DNA Labs UAE complies 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. All genetic data is encrypted, access-controlled, and processed solely for diagnostic purposes. Results are shared only with the referring physician and the patient or legal guardian. No genetic information is used for underwriting, employment, or any purpose beyond clinical care without explicit written consent.
Clinical & Logistical Metadata
| Test Name | CC2D1A Gene Sequencing (Autosomal Recessive Intellectual Disability Type 3, MRT3) |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 Days |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Finger-Prick Blood Spot (FTA Card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq Platform, Full Gene Coverage |
| ICD-10-CM Code | F78 |
| LOINC Code | 48018-6 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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