Test Price
2,800 AEDโ Home Collection Available
PDE6D Gene Joubert Syndrome Type 22 Genetic Test in UAE | 2800 AED | NGS Analysis
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing with next-generation sequencing technology.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance for result interpretation by a Consultant Medical Genetics professional.
- Insurance: Direct billing verification and preauthorization via WhatsApp at +971 54 548 8731.
- DHA Licensed Facility: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License No. 1143.
Test Overview & Methodology
This advanced next-generation sequencing (NGS) test analyses the PDE6D gene to identify pathogenic variants responsible for Joubert syndrome type 22, a rare neurodevelopmental disorder characterized by cerebellar vermis hypoplasia, hypotonia, developmental delay, and the distinctive molar tooth sign on neuroimaging. The assay delivers definitive molecular diagnosis for affected individuals and enables comprehensive carrier screening for at-risk family members. Pre-test genetic counseling is mandatory to construct a detailed pedigree and discuss all clinical implications.
| Feature | Our Test (PDE6D NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | โฅ99.9% sensitivity; detects single-nucleotide variants, indels, and copy-number changes across the entire coding region. | High specificity but limited to pre-known mutations; lower coverage depth and unable to detect structural variants. |
| Method | NGS with targeted enrichment, paired-end sequencing, and GATK bioinformatics pipeline with โฅ100x mean depth. | Sanger sequencing of targeted exons; limited to single-base resolution across short amplicons. |
| Turnaround Time | 3โ4 weeks | 6โ8 weeks |
Physician Insight & Safety Protocols
โI recognize the profound anxiety that accompanies the possibility of a genetic neurological condition in a family. This NGS assay provides highly precise detection of PDE6D variants, yet definitive diagnosis must be correlated with full clinical history, neuroimaging findings, and specialist evaluation by a paediatric neurologist or clinical geneticist. I strongly recommend discussing your results within a multidisciplinary setting that includes genetic counselling support.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Patient Safety Advisory
Do not discontinue, alter, or initiate any prescribed medication without direct consultation with your treating physician. This genetic test is intended for diagnostic and carrier screening purposes only and does not replace emergency medical care.
If you or your child experience new-onset seizures, severe headaches, sudden vision loss, breathing difficulties, or any acute neurological deterioration, seek emergency medical attention immediately by calling 998 or visiting the nearest hospital emergency department.
Exclusion Criteria & Contraindications
- Absolute Contraindications: Known severe coagulopathy or active bleeding disorder; acute systemic infection with fever >38.5ยฐC at the time of sample collection; inability to provide valid informed consent in accordance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Relative Contraindications: Recent blood transfusion within the past 72 hours (may dilute circulating leukocytes and compromise DNA yield); ongoing immunosuppressive therapy that may affect sample adequacy.
- Informed Consent: Written informed consent must be obtained by a qualified genetics professional before specimen collection, covering the scope of testing, potential incidental findings, data storage policies, and the right to withdraw at any stage.
Patient FAQ & Clinical Guidance
1. What is PDE6D gene testing for Joubert syndrome type 22?
Direct Answer: This NGS test analyzes the PDE6D gene for mutations causing Joubert syndrome type 22, a rare neurodevelopmental disorder affecting brain development and coordination.
It is a comprehensive molecular investigation that detects pathogenic variants in the PDE6D gene, confirming the clinical suspicion of Joubert syndrome type 22. The test serves diagnostic confirmation in symptomatic individuals, carrier screening in family members, and prenatal planning when indicated. A genetic counseling session is mandatory before testing to draw a detailed pedigree and discuss implications.
2. How is the test performed and what sample is required?
Direct Answer: A certified phlebotomist collects 3โ5 ml of whole blood or a buccal swab during a home visit, then analyzed by next-generation sequencing with results in 3โ4 weeks.
A certified phlebotomist will visit your home between 8 AM and 11 PM for a quick blood draw or buccal swab. The sample is transported in a temperature-controlled, ISO-certified cold chain directly to our laboratory for DNA extraction and NGS analysis. Results are delivered via a secure patient portal, followed by a tele-consultation with a genetics professional. All biological material is processed under ISO 9001:2015 certified workflows.
3. What is the turnaround time and total cost?
Direct Answer: Results are ready in 3 to 4 weeks from sample reception, with a total price of 2,800 AED inclusive of genetic counseling and home collection.
The total investment is 2,800 AED, which covers the NGS test, pre-test genetic counseling, post-test clinical guidance by a Consultant Medical Genetics, and the VIP home sample collection service. Turnaround time is 3 to 4 weeks from sample reception. We provide direct insurance billing support and can verify your coverage instantly via WhatsApp at +971 54 548 8731. The test is performed under DHA Facility License No. 1143 at our Dubai Healthcare City laboratory.
4. Who should consider this genetic test?
Direct Answer: Individuals with clinical features suggestive of Joubert syndrome, families with a known PDE6D mutation, and couples planning pregnancy with a family history of the condition.
Candidates include children presenting with hypotonia, developmental delay, ataxia, oculomotor apraxia, or the classic molar tooth sign on brain MRI; adults with a milder phenotypic variant; siblings of an affected individual seeking carrier status; and couples undergoing preimplantation or prenatal genetic testing. A referral from a neurologist, paediatrician, or clinical geneticist is strongly recommended to ensure appropriate test selection and interpretation.
5. What are the limitations of this test?
Direct Answer: NGS may not detect deep intronic variants, large structural rearrangements, or mosaic mutations below the 10% allele frequency threshold.
While the assay achieves โฅ99.9% sensitivity for single-nucleotide variants and small indels within the targeted coding regions and flanking splice sites, it cannot detect large deletions or duplications that span entire exons unless specifically assayed by additional MLPA or microarray analysis. Variants of uncertain significance (VUS) may be identified and require further family segregation studies to clarify pathogenicity. A negative result does not entirely exclude the diagnosis if clinical suspicion remains high.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the jurisdiction of the Dubai Health Authority (DHA) and complies with all applicable UAE federal laws governing medical practice, patient data protection, and health information technology. All genetic data generated through this test is processed and stored exclusively on encrypted servers within the UAE, with strict access controls and audit trails.
- Data Protection Framework: Full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring your genetic information is collected, processed, and stored with explicit consent and the right to access, rectification, and erasure.
- Health Information Technology: Adherence to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, governing electronic health records, telemedicine, and digital health data security.
- Medical Liability & Patient Safety: All clinical procedures, including sample collection, informed consent, and result disclosure, follow the standards set forth in Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: Laboratory operations are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), and the facility holds DHA License No. 1143 issued to Premises 105, Floor 1, Building 33, Dubai Healthcare City.
Your genetic data will never be shared with third parties without your explicit written consent, except where required by UAE law. You have the right to withdraw consent at any time and request deletion of your data subject to applicable retention obligations.
Clinical & Logistical Metadata
| Test Name | PDE6D Gene Joubert Syndrome Type 22 Genetic Test (Next-Generation Sequencing) |
| Price (AED) | 2,800 AED (inclusive of genetic counseling and home sample collection) |
| Turnaround Time | 3โ4 weeks from sample reception |
| Sample Type / Matrix | Whole blood (3โ5 ml in EDTA tube), buccal swab, or extracted DNA (โฅ1 ยตg at โฅ50 ng/ยตl). VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) with targeted enrichment, paired-end 150 bp reads, Illumina platform, GATK bioinformatics pipeline, and โฅ100x mean depth of coverage across all coding exons and flanking intronic regions of PDE6D. |
| ICD-10-CM Code | Q04.3 (Joubert syndrome) |
| LOINC Code | 81247-9 (PDE6D gene full mutation analysis in Blood or Tissue by NGS) |
| 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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