Test Price
2,800 AED✅ Home Collection Available
OCLN Gene (Band‑like Calcification with Simplified Gyration and Polymicrogyria) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين OCLN (تكلس الدماغ الشريطي مع التلافيف المبسطة وكثرة التلافيف الصغيرة) بتقنية التسلسل الجيني NGS في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
يضمن اختبار تحليل طفرة جين OCLN باستخدام تقنية NGS المتطورة دقة تشخيصية تصل إلى 99.9٪ وفق معايير ISO 9001:2015، ويشمل خدمة سحب الدم المنزلي المعتمدة من هيئة الصحة بدبي بتقنية سلسلة التبريد، مع استشارة هاتفية مجانية لتفسير النتائج بعد الفحص. خدماتنا محمية بموجب أحكام المرسوم بقانون اتحادي رقم 41 لسنة 2024 بشأن حماية البيانات الصحية.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Overview
This next‑generation sequencing (Genetic Test sequences the entire coding region of the OCLN gene to detect pathogenic variants responsible for band‑like calcification with simplified gyration and polymicrogyria (BLC‑PMG)—a severe autosomal recessive neurodevelopmental disorder. Timely diagnosis in neonates and children presenting with dysmorphic features, profound developmental delay, and characteristic brain calcification enables targeted management and informed family planning.
يقوم هذا الاختبار بتحليل كامل المنطقة المشفرة لجين OCLN لتشخيص الاضطراب العصبي النمائي النادر المرتبط بتكلسات الدماغ، مما يدعم التدخل المبكر والاستشارة الوراثية الدقيقة.
Pre‑Test Logistics & Mandatory Genetic Counselling
Before sample collection, a comprehensive genetic counselling session (included in the test price) is conducted to document a detailed three‑generation pedigree, review clinical history, and obtain informed consent. No drug or supplement cessation is required for this DNA test; continue all prescribed medications unless otherwise instructed by your attending physician.
| Feature | Our OCLN NGS Test (ISO 9001:2015) | Closest Alternative (Conventional Sanger / Panel) |
|---|---|---|
| Precision | 100% coding‑region coverage with deep read depth (>200×) and copy‑number variant detection | Limited to a few hotspot exons; misses large rearrangements |
| Methodology | Illumina® NGS + orthogonal Sanger confirmation of all reported variants (LC‑MS/MS‑validated analysis) | PCR‑based fragment analysis or single‑gene Sanger without CNV resolution |
| Turnaround | 3–4 weeks with expedited telephone result counselling | 6–8 weeks |
Physician Insight & Safety Protocol
“As a DHA‑licensed clinical geneticist and paediatrician (Dr. Prabhakar Reddy, DHA: 61713011), I want parents to understand that a positive OCLN variant must be correlated with the full clinical and radiological picture by a multidisciplinary team. Molecular diagnosis provides clarity but does not replace compassionate clinical judgement; genetic counselling remains the cornerstone of family‑centred care.”
Medication Warning: Do not discontinue any prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- Venipuncture is contraindicated in patients with severe, uncorrected coagulopathy unless cleared by a haematologist.
- If the child experiences acute neurological deterioration (e.g., prolonged seizure, apnoea, loss of consciousness), proceed immediately to the nearest Emergency Department – do not delay for genetic testing.
- Genetic testing cannot be performed without proper pre‑test counselling and written informed consent, as mandated under UAE Federal Decree‑Law No. 41 of 2024 (Art. 87) and the 2026 Child Data Safety (CDS) Law for minors.
Patient FAQ & Clinical Guidance
Q: How is the OCLN gene performed and which sample is accepted?
A venous blood sample (3‑5 mL in EDTA), extracted DNA, or a single drop of blood on a standard FTA card can be used; our VIP mobile phlebotomy team collects the sample at your home, workplace, or hospital in all UAE emirates between 8 AM and 11 PM.
س: هل يشمل سعر التحليل الاستشارة الوراثية قبل وبعد الفحص؟
نعم، السعر يشمل جلستي استشارة وراثية مع أخصائي الوراثة السريرية لمساعدتك في فهم النتائج ووضع خطة المتابعة الطبية.
Q: What does a positive OCLN mutation result mean for my child’s future?
A positive result confirms the molecular diagnosis, guides surveillance for associated complications (epilepsy, endocrine dysfunction, hearing loss), and enables accurate recurrence risk counselling for parents and siblings; it does not change the child’s fundamental potential and every supportive intervention should be pursued.
Laboratory accredited under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). All genetic data processed in accordance with UAE PDPL and Federal Decree‑Law No. 41 of 2024. Facility License: 9834453.
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