Test Price
2,800 AED✅ Home Collection Available
CSPP1 Gene (Joubert Syndrome Type 21) Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
DNA Labs UAE offers the CSPP1 gene sequencing test for Joubert syndrome type 21 using next‑generation sequencing (NGS) with analytical sensitivity exceeding 99.9%. The test is performed under DHA Facility License No. 1143 and complies with ISO 9001:2015 quality standards. Our integrated service includes VIP mobile phlebotomy with temperature‑controlled cold‑chain home collection (daily 8 AM–11 PM), a mandatory pre‑test genetic counselling session, and a post‑result teleconsultation with a board‑certified geneticist. Turnaround time is 3–4 weeks. Price: 2,800 AED. Insurance coverage verification is available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The CSPP1 gene NGS test detects pathogenic variants associated with Joubert syndrome type 21, a rare autosomal recessive ciliopathy characterised by cerebellar vermis hypoplasia, molar tooth sign on brain MRI, hypotonia, oculomotor apraxia, and developmental delays. This single‑gene analysis interrogates all coding exons and flanking splice‑site regions to identify point mutations, small insertions/deletions, and copy number variants. Molecular confirmation is essential for accurate genetic counselling, prognostic stratification, and family planning decisions.
| Feature | Our CSPP1 NGS Test | Standard Targeted Panel |
|---|---|---|
| Diagnostic Precision | 99.9% analytical sensitivity via high‑coverage NGS | ~95% for targeted mutations only |
| Methodology | Next‑Generation Sequencing (full gene coverage) | Sanger sequencing or limited hotspot analysis |
| Turnaround Time | 3–4 Weeks (21–28 business days) | 6–8 Weeks (often with reflex NGS required) |
Physician Insight & Safety Protocols
"Receiving a genetic diagnosis for a rare ciliopathy such as Joubert syndrome type 21 can be a profound moment for families. This NGS‑based test provides the molecular key needed to confirm clinical suspicions, refine prognosis, and guide multidisciplinary management. However, the genomic results must always be correlated with a detailed neurological examination, brain imaging, and ophthalmologic assessment by your specialist. Genetic counselling before and after testing is mandatory to ensure families understand recurrence risks, carrier implications, and the scope of incidental findings."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Advisory – Important Clinical Considerations
A mandatory genetic counselling session is required before blood collection. During this session, the counsellor will review the family pedigree, discuss autosomal recessive inheritance, explain the possibility of secondary findings, and obtain written informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Patients are advised to bring all prior imaging reports (brain MRI, ophthalmologic assessments) to the counselling appointment. No changes to current medications should be made without consulting the treating physician.
Exclusion Criteria & Clinical Red Flags
- Exclusion criteria: Individuals with an active febrile illness or systemic infection; patients unable to provide informed consent or lack of a legally authorised representative for minors; known bleeding diathesis or current anticoagulant therapy that contraindicates venipuncture.
- Emergency red flags: Sudden onset of unexplained ataxia, acute visual loss, respiratory irregularities, altered level of consciousness, or new‑onset seizure activity require immediate emergency medical evaluation independent of this testing pathway.
Patient FAQ & Clinical Guidance
1. What is the CSPP1 gene test for Joubert syndrome type 21?
The CSPP1 gene NGS test identifies disease‑causing mutations in the CSPP1 gene that lead to Joubert syndrome type 21, a rare neurological ciliopathy. The test covers the entire coding region using next‑generation sequencing to detect single‑nucleotide variants, small insertions and deletions, and copy number alterations. This molecular analysis is critical for confirming a clinical diagnosis, predicting disease trajectory, and informing reproductive options for at‑risk family members.
2. How is the test performed and what sample is required?
Our laboratory uses high‑sensitivity next‑generation sequencing on peripheral whole blood collected in an EDTA tube, or on an extracted DNA sample, or on a single blood spot on an FTA card. A certified phlebotomist performs the collection during a scheduled home visit available daily from 8 AM to 11 PM. The specimen is transported under a validated temperature‑controlled cold chain meeting ISO 9001:2015 standards. No fasting or alteration of medications is required unless specifically advised by your physician.
3. What genetic counselling and privacy safeguards are in place?
A mandatory pre‑test genetic counselling session is conducted to review the family pedigree, explain autosomal recessive inheritance, discuss possible incidental findings, and document informed consent. All genetic data is encrypted, stored on servers within the UAE, and protected under 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. Results are released only to the ordering physician and the patient or their legal guardian after post‑test counselling. No genetic information is shared with third parties without explicit written authorisation.
4. What is the turnaround time and how will I receive my results?
The standard turnaround time is 3–4 weeks (21–28 business days) from the date the sample reaches our laboratory. Results are delivered in a secure digital format to the ordering physician and to the patient through a confidential online portal. A follow‑up teleconsultation with our consultant medical geneticist is scheduled within one week of result release to explain the findings, discuss clinical implications, and coordinate any recommended specialist referrals.
5. Does insurance cover this genetic test and how do I verify my coverage?
Coverage varies by insurance provider and policy. DNA Labs UAE offers a free pre‑authorisation verification service via WhatsApp at +971 54 548 8731. Our billing team will check your policy’s genetic testing benefits, obtain any required approvals, and inform you of any applicable co‑pay or deductible before the test is performed. The self‑pay price is 2,800 AED inclusive of the genetic counselling session, phlebotomy, analysis, and post‑test consultation.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and strictly complies with all applicable UAE federal regulations governing genetic testing and patient data protection. Your genetic information is handled in full accordance with 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 genomic data is encrypted at rest and in transit, stored on UAE‑based servers, and accessible only to authorised clinical personnel. No data is transferred outside the country without your explicit written consent. Our laboratory holds ISO 9001:2015 certification and follows CAP/CLIA-equivalent quality standards for molecular diagnostics.
Clinical & Logistical Metadata
| Test Name | CSPP1 Gene (Joubert Syndrome Type 21) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (21–28 Business Days) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | Q04.3 |
| LOINC Code | 81260-6 |
| 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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