Test Price
2,800 AED✅ Home Collection Available
NR2E1 Gene Polymicrogyria Bilateral Occipital Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين NR2E1 للكشف عن كثرة التلافيف الصغيرة القذالية الثنائية في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي: يقدم تحليل جين NR2E1 بواسطة تقنية التسلسل الجيني المتقدم (NGS) للكشف عن كثرة التلافيف الصغيرة القذالية الثنائية. نضمن دقة تشخيصية تصل إلى 99.9% عبر مختبر حاصل على شهادة ISO 9001:2015، مع خدمة سحب منزلي فاخر واستشارة وراثية عبر الهاتف بعد النتيجة.
Comprehensive Overview of the Test
The NR2E1 gene test detects pathogenic variants responsible for bilateral occipital polymicrogyria (BOP), a severe cortical malformation. This next-generation sequencing (NGS) analysis screens the entire coding region and splice junctions, providing definitive molecular confirmation for affected individuals and at-risk family members.
| Feature | Our NR2E1 NGS Test | Closest Alternative (Exome/Array) |
|---|---|---|
| Diagnostic Precision | Single-gene full coverage – >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 | 4–8 Weeks (WES), 3–6 Weeks (CMA) |
| Price | 2800 AED | 3500–5000 AED |
Physician Insight & Safety Protocol
“A positive NR2E1 mutation must be correlated with neuroimaging and clinical phenotype. This test offers families a precise genetic diagnosis, enabling personalized surveillance and recurrence risk counseling. I strongly advise post-test genetic consultation to fully understand the implications for the patient and relatives.” – Dr. Prabhakar Reddy, DHA License 61713011.
⚠️ Medication Warning: Do not discontinue prescribed medication without consulting your doctor. Genetic test results are not a substitute for ongoing neurological management.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Specimen collection from infants under 3 kg without proper pediatric phlebotomy kit; sample not stabilized on FTA card or EDTA tube.
- Exclusion: Recent blood transfusion (within 2 weeks) may cause donor DNA interference.
- Red Flag: Seizure exacerbation, status epilepticus, or acute neurological decline – 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 3–4 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 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 CDS Law 2026 for minors.
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians