Test Price
2,800 AED✅ Home Collection Available
CC2D2A Gene Joubert Syndrome Type 9 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with a genetics specialist.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Executive Summary: This precise genetic test diagnoses pathogenic variants in the CC2D2A gene linked to Joubert syndrome type 9, using advanced sequencing and international quality standards, providing reliable diagnosis and personalized care planning in the UAE.
Test Overview & Methodology
This advanced NGS test analyzes the entire coding region of the CC2D2A gene to detect pathogenic variants causing Joubert syndrome type 9, a rare neurodevelopmental disorder. The test delivers definitive genetic diagnosis with >99.9% sensitivity, enabling early intervention, family planning, and personalized neurological care in the UAE.
| Feature | Our Test (CC2D2A NGS) | Standard Panel / Sanger Sequencing |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – high coverage | Sanger sequencing of select exons |
| Diagnostic Sensitivity | 99.9% | ~95% (limited to known hotspots) |
| Turnaround Time | 3-4 Weeks | 4-6 Weeks |
| Compliance | DHA/MOHAP, ISO 9001:2015, Federal Decree-Law No. 45 of 2021 (PDPL), Federal Law No. 2 of 2019 | Variable |
Physician Insight & Safety Protocols
"As a consultant medical geneticist, I emphasize that this test is a powerful diagnostic tool for Joubert syndrome type 9. Results must always be interpreted alongside a full neurological and developmental evaluation by a qualified specialist. Genetic counseling is strongly recommended for families."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory on Medication Management
⚠ Medication Safety Notice
Never discontinue or modify prescribed medication without consulting your treating physician. This genetic test provides diagnostic information, not therapeutic advice.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Exclusion: Patients who received a blood transfusion within the last 2 weeks (may affect DNA sample accuracy).
- Exclusion: Inability to provide a suitable blood sample or dried blood spot (FTA card) due to severe dermatological conditions.
Emergency Red Flags
- ER Red Flag: If the patient experiences sudden neurological deterioration, loss of consciousness, uncontrolled seizures, or respiratory distress, seek emergency medical care immediately.
Patient FAQ & Clinical Guidance
1. What is the CC2D2A Gene Joubert Syndrome Type 9 NGS Test?
This test screens for pathogenic variants in the CC2D2A gene linked to Joubert syndrome type 9 using next-generation sequencing, providing a precise molecular diagnosis.
2. How accurate is this test and how long does it take?
It offers over 99.9% diagnostic sensitivity for the tested gene region and reports results in 3-4 weeks.
3. What sample is required and how is it collected?
A blood sample, extracted DNA, or a single drop of blood on an FTA card is collected by our DHA-licensed phlebotomist at your home via VIP Mobile Phlebotomy.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and complies with the following UAE federal laws:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – Ensuring patient genetic data privacy and security.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Governing electronic health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – Establishing clinical testing safety and informed consent standards.
All test results are handled with strict confidentiality and in accordance with these regulatory frameworks.
Clinical & Logistical Metadata
| Test Name | CC2D2A Gene Joubert Syndrome Type 9 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 weeks |
| Sample Type / Matrix | Peripheral blood (3-5 mL in EDTA) or Dried Blood Spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) – Whole Gene Sequencing |
| ICD-10-CM Code | Q04.3 (Joubert syndrome) |
| LOINC Code | 21748-6 (Genetic analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians