Test Price
2,800 AED✅ Home Collection Available
OFD1 Gene Joubert Syndrome Type 10 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Assurance & Service Excellence
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic post-test genetic counselling with DHA-licensed specialists to interpret results and guide management.
Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region and flanking intronic boundaries (±20 bp) of the OFD1 gene to detect pathogenic variants, small insertions/deletions, and copy-number variations (CNVs) associated with Joubert syndrome type 10 (JBTS10) and related ciliopathies. In the UAE, it serves neurologists, pediatric neurologists, and clinical geneticists in confirming the molecular diagnosis, guiding surveillance protocols, and enabling informed family planning decisions.
| Feature | Our Test (OFD1 NGS) | Closest Alternative (Single‑gene Sanger) |
|---|---|---|
| Precision | >99.9% analytical sensitivity, full gene coverage (exons ±20 bp, CNV detection) | ~99.0% sensitivity, may miss deep intronic or large deletions |
| Method | NGS with integrated copy‑number variation (CNV) analysis | Sanger sequencing only |
| Turnaround | 3–4 weeks (expedited available) | 4–6 weeks |
Physician Insight & Safety Protocols
“Interpreting a positive OFD1 variant requires careful integration with brain MRI, renal ultrasound, and ophthalmologic assessments. I always stress the importance of pre‑ and post‑test genetic counselling to thoroughly evaluate variant pathogenicity, recurrence risk, and cascade testing for family members. Our multidisciplinary team is dedicated to guiding you from diagnosis through long‑term management.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory & Safety Warnings
Do not stop or modify any prescribed medication without consulting your treating physician. This genetic test provides diagnostic information and does not replace ongoing clinical management. If you have a known allergy to any component of the blood draw kit, inform the phlebotomist in advance.
Exclusion Criteria & ER Red Flags
- Acute respiratory distress or uncontrolled seizures — proceed to emergency care immediately.
- Severe hypotonia with feeding difficulties in infants — urgent pediatric neurology assessment required.
- Known mosaic variant in affected tissue; blood may not be representative — alternative tissue sample may be needed.
- Previous bone marrow transplant from a donor with a different genetic status — blood may reflect donor DNA.
Patient FAQ & Clinical Guidance
1. What is the accuracy of the OFD1 NGS test for Joubert syndrome type 10?
The test achieves over 99.9% analytical sensitivity for detecting single‑nucleotide variants, small insertions/deletions, and copy‑number changes within the OFD1 gene, making it the gold‑standard molecular confirmation for Joubert syndrome type 10.
2. Can this test be performed on a blood spot card?
Yes, we accept whole blood, extracted DNA, or a single drop of blood on an FTA card. This flexibility supports home collection and is particularly convenient for paediatric patients or those with difficult venous access.
3. How long does it take to receive results and what support is provided?
Results are reported within 3 to 4 weeks. You will receive a comprehensive clinical report reviewed by a DHA‑licensed genetics consultant, plus a telephonic post‑test counselling session to clarify findings and discuss next steps.
4. Will my insurance cover the cost of the test?
We offer direct billing verification for many UAE insurance plans. Please contact us via WhatsApp at +971 54 548 8731 to confirm coverage under your specific policy.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Stewardship
DNA Labs UAE operates under DHA Facility License Number 1143 and fully complies with the 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 encrypted, access‑controlled, and used solely for diagnostic reporting as per the consent provided by the patient.
Clinical procedures are conducted in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring patient safety and consent protocols are strictly observed.
Clinical & Logistical Metadata
| Test Name | OFD1 Gene Sequencing (Joubert Syndrome Type 10) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks (expedited available) |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV analysis |
| ICD-10-CM Code | Q04.3 |
| LOINC Code | 82294-1 |
| DHA Facility License & Lab Address | License No. 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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