Test Price
2,800 AEDโ Home Collection Available
CPLANE1 Gene (Joubert Syndrome Type 17) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Comprehensive Molecular Diagnosis for Joubert Syndrome Type 17
This next-generation sequencing (NGS) analysis of the CPLANE1 gene provides definitive identification of pathogenic variants causative of Joubert syndrome type 17, a rare neurodevelopmental disorder characterized by cerebellar vermis hypoplasia. The assay delivers 99.9% diagnostic sensitivity through ISO 9001:2015 accredited processing, with integrated post-test genetic counseling.
- Diagnostic Accuracy: 99.9% sensitivity for single nucleotide variants and copy number variants via NGS with high coverage.
- Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ 11 PM) for peripheral whole blood or FTA card blood spot.
- Clinical Support: Telephonic post-test guidance from a Consultant Medical Geneticist, including family recurrence risk assessment.
- Insurance Verification: Direct billing confirmation via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The CPLANE1 gene sequencing test employs next-generation sequencing (NGS) with high coverage depth to detect pathogenic variants responsible for Joubert syndrome type 17. This monogenic disorder presents with cerebellar vermis hypoplasia, hypotonia, developmental delay, and characteristic breathing abnormalities. Our ISO-certified molecular diagnostics laboratory in Dubai Healthcare City delivers a definitive molecular diagnosis to guide early intervention, developmental therapies, and informed family planning.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) with High Coverage | Sanger Sequencing (limited to known mutations) |
| Turnaround Time | 21โ28 Business Days (3โ4 Weeks) | 4โ6 Weeks |
| Diagnostic Sensitivity | >99.9% for SNVs and CNVs | ~98% (misses large deletions) |
| Post-Test Support | Included Consultant Medical Geneticist interpretation | Often additional fee for counseling |
Physician Insight & Safety Protocols
A Note from Lina Osama Zaki Quteineh โ Consultant Medical Genetics (DHA: 9294403)
Establishing a precise molecular diagnosis for Joubert syndrome type 17 is the cornerstone of personalized care. In my practice, I pair every CPLANE1 sequencing result with a comprehensive clinical evaluation and a dedicated genetic counseling session. This ensures families receive not only a definitive answer but also a clear, compassionate roadmap for early intervention, developmental support, and recurrence risk management.
Clinical Advisory for Genetic Testing
Important Pre-Test Guidance
This genetic test is intended for elective diagnostic purposes in stable patients with clinical suspicion of Joubert syndrome. Results should always be interpreted in the context of a complete neurological and developmental assessment. If your child is currently on any prescribed therapies, continue all treatments as directed by the managing physician unless specifically advised otherwise by the genetic counselor.
Safety Exclusion Criteria & Emergency Red Flags
- Patients experiencing acute neurological deterioration (e.g., profound hypotonia, uncontrolled seizures, respiratory distress) must receive emergency care before any elective genetic workup.
- Individuals with known bleeding disorders or difficult venous access require prior evaluation by a pediatric phlebotomy team to ensure safe collection.
- If the patient develops new-onset severe apnea, loss of consciousness, or signs of respiratory failure, proceed immediately to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What does a positive CPLANE1 result indicate for my child's long-term health?
A positive result confirms Joubert syndrome type 17, enabling early neurological intervention, targeted developmental therapies, and precise family genetic counseling to assess recurrence risk in future pregnancies.
2. How is the genetic sample collected from infants or young children?
A trained pediatric phlebotomist performs a gentle venipuncture for peripheral whole blood collection or a minimally invasive fingerโprick onto an FTA blood spot card. Both methods are safe, quick, and designed to minimize discomfort for pediatric patients.
3. Does health insurance cover the cost of this genetic test?
Coverage varies by insurer. Contact our billing team via WhatsApp at +971 54 548 8731 to verify your policy. The out-of-pocket cost is 2,800 AED, which includes the full NGS analysis and a post-result genetic counseling session.
4. How long does it take to receive results after sample submission?
The standard turnaround time is 21โ28 business days (3โ4 weeks) from the date the sample is received by the laboratory. Results are delivered electronically with a detailed interpretative report from the Consultant Medical Geneticist.
UAE Regulatory & Data Privacy Adherence
Trusted Compliance Framework
This genetic testing service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing genomic data privacy, Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health records, and Federal Decree-Law No. 4 of 2016 on Medical Liability covering clinical testing safety and patient consent. All laboratory processes adhere to ISO 9001:2015 quality management standards (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | CPLANE1 Gene (Joubert Syndrome Type 17) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21โ28 Business Days (3โ4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) with High Coverage |
| ICD-10-CM Code | Q04.3, Z13.71, Z13.79 |
| LOINC Code | 48006-4 |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians