Test Price
2,800 AED✅ Home Collection Available
EPB41L1 Gene-Related Autosomal Dominant Intellectual Disability Type 11 (MRD11) Genetic Test in UAE
Executive Summary & Core Metrics
Clinical Precision: 99.9% Diagnostic Sensitivity & Specificity via ISO 9001:2015 Accredited NGS Processing.
Premium Logistics: ISO-Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM‑11 PM).
Clinical Guidance: Post‑test telephonic result interpretation by a DHA‑licensed Consultant Medical Genetics.
Insurance & Billing: Direct verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The EPB41L1 gene, encoding protein 4.1B, is causally linked to autosomal dominant intellectual disability type 11 (MRD11), a neurodevelopmental disorder characterised by developmental delay, cognitive impairment, and variable behavioural features. This next‑generation sequencing (NGS) panel interrogates the entire coding region and splice junctions of EPB41L1 to detect pathogenic single nucleotide variants, small insertions/deletions, and copy number variations at single‑base resolution. A definitive molecular diagnosis enables accurate prognosis, targeted surveillance, and informed reproductive counselling for affected individuals and at‑risk family members in the UAE.
| Feature | Our EPB41L1 NGS Test | Closest Alternative (CMA/Karyotyping) |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) – Illumina NovaSeq X Plus | Chromosomal Microarray (CMA) / Conventional Karyotype |
| Resolution | Detects single nucleotide variants, indels & CNVs down to 1 bp | Only large structural variants (>50 kb–5 Mb); misses point mutations |
| Turnaround Time | 21–28 Business Days | 10–28 Business Days (limited to chromosomal level) |
| Diagnostic Yield for MRD11 | >99% for EPB41L1 gene mutations | Approx. 0% (cannot resolve single‑gene defects) |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): “A positive EPB41L1 result establishes a molecular aetiology for the patient’s intellectual disability and directs tailored surveillance, developmental support, and reproductive risk assessment. A negative result, however, does not exclude all genetic or environmental causes; comprehensive clinical evaluation remains essential. I strongly recommend structured pre‑test and post‑test genetic counselling to ensure families fully understand the implications for themselves and future offspring.”
Medication Advisory & Safety Red Flags
Do not alter or discontinue any prescribed medication or therapy solely on the basis of genetic test results. Always consult your treating physician before making any changes to your care plan.
Seek Emergency Medical Attention Immediately if:
- Sudden onset of severe behavioural changes, aggression, or self‑harm.
- New or worsening seizures, loss of consciousness, or unexplained falls.
- Acute neurological deterioration, including loss of previously attained developmental milestones.
- Any concern about ability to perform basic self‑care or maintain personal safety.
Exclusion Criteria for Testing
- Individuals unable to provide informed consent (legal guardian consent is mandatory for minors in accordance with UAE Federal Law No. 2 of 2019).
- Patients who decline mandatory pre‑test genetic counselling.
- Inadequate sample quality, such as haemolysis, clotted blood, or insufficient volume for NGS library preparation.
- Known chromosome abnormality or syndrome that clinically accounts for the intellectual disability phenotype.
Patient FAQ & Clinical Guidance
1. What is the accuracy of the EPB41L1 genetic test for intellectual disability?
The EPB41L1 NGS panel delivers 99.9% analytical sensitivity and 99.9% specificity for all pathogenic variants within the gene’s coding region and splice junctions. Validation follows ISO 9001:2015 protocols and DHA quality standards, ensuring highly reliable results for clinical decision‑making.
2. How long does it take to receive EPB41L1 test results in the UAE?
Results are typically reported within 21 to 28 business days from the date the sample arrives at our central processing laboratory in Dubai Healthcare City. Secure electronic reports are delivered directly to the requesting physician, with a copy provided to the patient.
3. Is genetic counselling mandatory before and after this test?
Yes, pre‑test genetic counselling is mandatory to ensure that patients and families understand the purpose, scope, limitations, and potential outcomes of the analysis. Post‑test counselling is strongly recommended to interpret results accurately, discuss recurrence risks, and plan appropriate medical and educational interventions.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: Your genomic data is processed in strict 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. All genetic information is encrypted end‑to‑end, stored on secure servers within the UAE, and never shared with third parties without explicit written consent.
Clinical Safety & Patient Consent: All testing procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring that patient safety, informed consent, and professional accountability are maintained throughout the diagnostic pathway.
Minor & Adolescent Policy: Testing of individuals under 18 years requires written consent from a parent or legal guardian, accompanied by in‑person genetic counselling, in full alignment with UAE paediatric healthcare regulations.
Clinical & Logistical Metadata
| Test Name | EPB41L1 Gene-Related Autosomal Dominant Intellectual Disability Type 11 (MRD11) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Business Days |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) |
| Methodology Used | Next Generation Sequencing (NGS) – Illumina NovaSeq X Plus |
| ICD-10-CM Code | F70 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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