Test Price
2,800 AEDโ Home Collection Available
NR2E1 Gene Polymicrogyria Bilateral Occipital Genetic Test in UAE | 2800 AED | DHA Licensed Lab
Executive Summary & Core Metrics
This test uses targeted next-generation sequencing to detect pathogenic variants in the NR2E1 gene, associated with bilateral occipital polymicrogyria. It offers diagnostic accuracy exceeding 99.9%, VIP home phlebotomy, and post-test genetic counseling.
Test Overview & Methodology
The NR2E1 gene test identifies pathogenic variants causing bilateral occipital polymicrogyria (BOP), a severe cortical malformation. This targeted next-generation sequencing (NGS) analysis covers the entire coding region and splice junctions, with MLPA backup to detect deletions and duplications, providing definitive molecular confirmation.
| Feature | Our NR2E1 NGS Test | Closest Alternative (Exome/Array) |
|---|---|---|
| Diagnostic Precision | Single-gene full coverage โ >99.9% analytical sensitivity for NR2E1 variants | May miss deep intronic or copy-number variations specific to NR2E1 |
| Methodology | Targeted NGS with MLPA backup for deletions/duplications | Whole exome sequencing (WES) with variable coverage; chromosomal microarray (CMA) for large CNVs |
| Turnaround Time | 3 to 4 Weeks | 4โ8 Weeks (WES), 3โ6 Weeks (CMA) |
| Price | 2800 AED | 3500โ5000 AED |
Physician Insight & Safety Protocols
โTargeted NR2E1 sequencing provides definitive molecular diagnosis for families at risk. I emphasize the importance of neuroimaging correlation and genetic counseling for recurrence risk assessment.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA 9294403.
Advisory: Genetic Testing Considerations
While this test provides critical information, it does not replace clinical management. Do not alter treatment or medication without consulting your healthcare provider. Genetic results should be interpreted in conjunction with clinical findings.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Exclusion: Specimen collection from infants under 3 kg without appropriate pediatric phlebotomy kit; sample not stabilized on FTA card or EDTA tube.
- Exclusion: Recent blood transfusion (within 2 weeks) may cause donor DNA interference.
Emergency Red Flags
- Red Flag: Seizure exacerbation, status epilepticus, or acute neurological decline โ seek immediate emergency care; laboratory testing should not delay acute intervention.
- Red Flag: Any suspicion of non-accidental injury or child abuse must be reported per UAE child protection laws.
Patient FAQ & Clinical Guidance
1. Is this test painful, and how is the sample collected?
Snippet: Home collection is performed by a licensed phlebotomist using a simple venipuncture or a finger-prick FTA card, causing minimal discomfort.
We offer both whole blood draw and a nearly painless FTA card (one drop of blood from a finger) for infants and anxious patients. The sample is transported in a temperature-controlled kit directly to our ISO-certified lab.
2. How long until I receive results, and who will explain them?
Snippet: Results are available in 3โ4 weeks and are delivered with a telephonic consultation by a clinical geneticist to interpret findings.
Once the report is finalized, you will be contacted via WhatsApp to schedule a post-test guidance call. We ensure you understand the implications, even if the result is negative or reveals a variant of uncertain significance.
3. Can this test be used for prenatal diagnosis?
Snippet: Yes, after establishing the familial mutation, prenatal testing via amniocentesis or CVS can be arranged with genetic counseling.
Our laboratory accepts cultured amniocytes or chorionic villus samples. Written informed consent and DHA-approved genetic counseling are mandatory. We strictly adhere to UAE fetal testing regulations, including the DHAโs guidelines for genetic testing in pregnancy.
UAE Regulatory & Data Privacy Adherence
Data security and patient consent comply 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 testing safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | NR2E1 Gene Polymicrogyria Bilateral Occipital Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with MLPA |
| ICD-10-CM Code | Q04.8 |
| LOINC Code | 94223-0 |
| DHA Facility License & Laboratory Address Invariants | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians