Test Price
2,800 AED✅ Home Collection Available
OPHN1 Gene X‑Linked Intellectual Disability with Cerebellar Hypoplasia Genetic Test in UAE | AED 2800
Executive Summary & Core Metrics
This advanced genetic test sequences the OPHN1 gene using Next‑Generation Sequencing (NGS) to diagnose X‑linked intellectual disability with cerebellar hypoplasia and distinctive facial features. The laboratory provides diagnostic accuracy exceeding 99.9%, operating under ISO 15189:2022 accreditation. Sample collection is performed via VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM. Post‑test genetic counseling is included via telephone. Direct insurance coverage verification is available through WhatsApp at +971545488731.
Test Overview & Methodology
This test utilizes Next‑Generation Sequencing (NGS) on the Illumina NovaSeq 6000 platform at 100x depth to analyze the entire coding region of the OPHN1 gene. It detects pathogenic variants associated with X‑linked intellectual disability, cerebellar hypoplasia, and distinctive facial dysmorphism. The methodology provides >99.9% analytic sensitivity with full gene coverage.
| Feature | DNA Plus™ Test (Our Service) | Conventional/Alternative Test |
|---|---|---|
| Precision | >99.9% analytic sensitivity, full gene coverage | Varies; may use limited variant panels |
| Method | Illumina NovaSeq 6000 NGS with 100x depth | Sanger sequencing of single exons; PCR‑based |
| Turnaround | 3–4 Weeks (express available) | 4–8 Weeks |
| UAE Compliance |
Full DHA & PDPL Federal Decree‑Law No. 45 of 2021 on Personal Data Protection |
May not meet all UAE genetic counselling mandates |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasise the importance of early molecular confirmation for X‑linked intellectual disability syndromes. The OPHN1 NGS test provides definitive genetic results that guide neurodevelopmental interventions, prognosis discussions, and family counselling. Please interpret these results alongside the complete clinical history and examination findings.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Notice
⚠️ Important: Do not discontinue any prescribed medication without consulting your doctor. This test is for diagnostic purposes only and does not replace current treatment regimens.
Exclusion Criteria & Red Flags
- Acute illness with fever >38.5°C – postpone sample collection until afebrile for 24 hours.
- Known haematological disorder affecting blood clotting (unless physician clearance obtained).
- Seek immediate emergency care if the patient develops new seizures, loss of consciousness, or severe breathing difficulty – do not wait for test results.
- For hospitalised patients, sample collection must be coordinated with the treating medical team.
Patient FAQ & Clinical Guidance
1. What is the OPHN1 gene test and why is it recommended?
Answer: This test sequences the OPHN1 gene for mutations that cause X‑linked intellectual disability, cerebellar hypoplasia, and distinctive facial features. It is the definitive molecular diagnostic tool for confirming the syndrome, guiding early therapies, and enabling accurate genetic counselling for family planning.
2. How is the test performed and what sample is needed?
Answer: A blood sample is required for NGS sequencing of the entire OPHN1 gene. Our VIP home‑collection team uses a cold‑chain phlebotomy kit for convenient and safe sample procurement. Alternatively, you may provide extracted DNA or a drop of blood on an FTA card.
3. What is the turnaround time and cost?
Answer: The test costs AED 2800 with results available within 3 to 4 weeks, including a post‑test genetic counseling session. An express option may be available; contact us via WhatsApp +971545488731 for current availability and insurance pre‑approval.
UAE Regulatory & Data Privacy Adherence
This genetic test is fully compliant with UAE regulations, including 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 processed within the UAE under DHA supervision. Clinical safety and patient consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Telephonic post‑test guidance must not replace a face‑to‑face clinical consultation.
Clinical & Logistical Metadata
| Test Name | OPHN1 Gene Sequencing (X‑Linked Intellectual Disability with Cerebellar Hypoplasia) |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3–4 Weeks (express available) |
| Sample Type / Matrix | Peripheral whole blood (5 mL in EDTA) or extracted DNA / FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina NovaSeq 6000, 100x depth, full gene coverage |
| ICD-10-CM Code | Q04.3 (Cerebellar hypoplasia), F70 (Mild intellectual disabilities) |
| LOINC Code | 93934-5 (OPHN1 gene mutation analysis) |
| 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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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians