Test Price
2,800 AEDโ Home Collection Available
TCTN3 Gene Joubert Syndrome Type 18 Genetic Test | 2,800 AED | DHA-Licensed Genetic Diagnostics
Executive Summary & Core Metrics
Clinical Assurance Summary
- Diagnostic Precision: >99.9% analytical sensitivity for single-nucleotide variants and small indels via ISO 9001:2015 accredited next-generation sequencing workflow (Cert: INT/EGQ/2509DA/3139).
- Sample Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM for standard whole-blood specimens.
- Post-Test Support: Complimentary telephonic consultation with a DHA-licensed consultant medical geneticist for result interpretation and genetic counseling.
- Insurance Verification: Direct billing confirmation available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The TCTN3 Gene Joubert Syndrome Type 18 Genetic Test employs comprehensive next-generation sequencing (NGS) to identify pathogenic variants in the TCTN3 gene, confirming or ruling out Joubert syndrome type 18. This rare ciliopathy presents with significant neurological involvement, and molecular confirmation is essential for precision neuro-pediatric management, accurate genetic counseling, and informed family planning. The assay delivers actionable results within a standard turnaround of 21โ28 days.
| Parameter | TCTN3 NGS Test | Single-Gene Sanger Sequencing |
|---|---|---|
| Molecular Coverage | Full gene coverage (exons, splice sites, deep intronic regions) with uniform read depth | Targeted region sequencing; may miss deep intronic or regulatory variants |
| Turnaround Time | 21โ28 Days | 42โ56 Days |
| Diagnostic Yield | >99.9% analytical sensitivity for SNVs/indels | ~97%, limited by amplicon design |
| Clinical Utility | Carrier testing, prenatal confirmation, variant of uncertain significance resolution | Primarily diagnostic; less suited for comprehensive screening |
| Cost (AED) | 2,800 | 3,500 โ 4,200 |
Physician Insight & Safety Protocols
"As a consultant medical geneticist, I emphasize that the TCTN3 NGS test provides molecular confirmation of Joubert syndrome type 18, but it must always be correlated with the patient's clinical presentationโincluding neuroimaging findings, developmental milestones, and detailed family history. A genetic variant should never be interpreted in isolation; a negative result does not exclude the syndrome if clinical suspicion remains high. This test is a powerful adjunct when incorporated into a comprehensive neurometabolic evaluation." โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory: Indications and Interpretation
This test is indicated for individuals presenting with clinical features suggestive of Joubert syndrome type 18, including hypotonia, developmental delay, oculomotor apraxia, and the molar tooth sign on neuroimaging. Pre-test genetic counseling is mandatory to ensure informed consent and to discuss potential implications for family members. Results should be interpreted by a qualified clinical geneticist in conjunction with segregation analysis and functional studies when relevant.
Patient Safety Exclusion Criteria and Emergency Red Flags
- Exclusion Criteria: This test is not indicated for asymptomatic individuals without a family history or clinical suspicion of Joubert syndrome; pre-test genetic counseling is mandatory to ensure informed consent.
- Pre-test Requirement: A documented clinical history and a pedigree chart of affected family members must be provided prior to sample collection.
- Emergency Red Flags: If the patient experiences new-onset seizures, acute respiratory distress, severe hypotonia with feeding difficulties, or unexplained loss of consciousness, seek immediate emergency medical attention. These symptoms may indicate brainstem compression or acute neurological deterioration, which are beyond the scope of this elective genetic test.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the TCTN3 NGS test for a child presenting with neurological symptoms?
This test provides definitive molecular confirmation of Joubert syndrome type 18 by detecting disease-causing TCTN3 variants, enabling precise neuro-care management, accurate genetic counseling, and informed family planning decisions.
2. How long does it take to receive results for the TCTN3 gene sequencing test?
The complete NGS analysis and clinical interpretation require 21โ28 days (3โ4 weeks) from the date of sample receipt, with >99.9% analytical sensitivity for detecting pathogenic variants.
3. Can a negative TCTN3 NGS result completely exclude Joubert syndrome?
A negative result does not rule out the syndrome if other causative genes or copy-number variations are present; further clinical evaluation and additional genetic testing may still be warranted based on the patient's phenotype.
4. What sample type is required for this genetic test, and how is it collected?
A standard peripheral whole-blood sample is required. Collection is performed via VIP Mobile Phlebotomy at home or at one of our accredited collection centers, ensuring temperature-controlled cold-chain transport to the laboratory.
5. Is pre-test genetic counseling mandatory before undergoing this test?
Yes, pre-test genetic counseling is mandatory to ensure informed consent, discuss potential outcomes, and review the implications for the patient and their family members. Our DHA-licensed consultant medical geneticist provides this consultation at no additional cost.
UAE Regulatory & Data Privacy Adherence
This clinical service operates in full compliance with the UAE federal legislative framework governing health data protection and medical liability:
- Data Protection: All patient genetic data is processed and stored in accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Security: Electronic health records and diagnostic results are managed under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability: Clinical procedures and patient safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Facility Licensing: All laboratory operations are conducted under DHA Facility License Number 1143, ensuring compliance with Dubai Healthcare City regulatory standards.
Clinical & Logistical Metadata
| Test Name | TCTN3 Gene Joubert Syndrome Type 18 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 21โ28 Days (3โ4 Weeks) |
| Sample Type / Matrix | Whole Blood (Peripheral) |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q04.3 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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