Test Price
2,800 AED✅ Home Collection Available
KIAA0586 Gene (Joubert Syndrome Type 23) Next-Generation Sequencing – Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Advanced NGS diagnostic for KIAA0586 gene mutations causing Joubert syndrome type 23. Fully compliant with Dubai Health Authority (DHA) standards and UAE data protection regulations.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic post-test clinical guidance for result interpretation.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The KIAA0586 gene test employs Next-Generation Sequencing (NGS) to detect pathogenic variants associated with Joubert syndrome type 23, a rare ciliopathy characterised by neurological and developmental abnormalities. This test is essential for confirming diagnosis in individuals with the molar tooth sign on MRI, as well as for carrier screening and prenatal planning. A mandatory pre-test genetic counselling session is required to construct a family pedigree chart and document clinical history. Acceptable specimens include whole blood, extracted DNA, or one-drop blood on an FTA card.
| Feature | Our Test (NGS Panel) | Sanger Sequencing (Single Variant) |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity | High for known familial variant, but misses novel or other variants |
| Method | Full KIAA0586 gene NGS (all exons, splice sites) | Targeted dideoxy sequencing of one specific site |
| Turnaround Time | 3–4 Weeks | 2 Weeks |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I recognise the profound impact that a genetic diagnosis can have on a family. The KIAA0586 NGS test delivers highly accurate results, but must always be interpreted within the full clinical context — including brain imaging findings and developmental history. I strongly advise genetic counselling before and after testing to help families understand the implications for themselves and future generations.” — Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA: 9294403)
Medication Advisory
⚠ Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic test results may inform future treatment decisions, but current therapies should not be altered without medical guidance.
Safe Testing Criteria & Exclusion Guidelines
Exclusion Criteria & ER Red Flags
- Exclusion Criteria: For minors, genetic testing requires a court order or documented therapeutic necessity in accordance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability; genetic counselling is obligatory. Prenatal samples are accepted only with legal authorisation.
- Emergency Red Flags: If sudden severe seizures, respiratory distress, or rapidly worsening hypotonia occur before or after sample collection, seek immediate emergency medical care.
Patient FAQ & Clinical Guidance
1. What is the KIAA0586 gene test used for?
The KIAA0586 genetic test identifies pathogenic mutations causing Joubert syndrome type 23, a disorder characterised by brain malformation, hypotonia, and developmental delay. This diagnosis allows clinicians to tailor early intervention and supportive therapies. It also aids carrier screening and family planning.
2. How is the sample collected and how long do results take?
A certified phlebotomist collects a blood sample via our VIP Mobile Phlebotomy home service (daily 8 AM – 11 PM) using temperature-controlled cold-chain logistics. Results are delivered in 3 to 4 weeks using NGS technology.
3. Is this test legal and safe for children in the UAE?
Yes, under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability, genetic testing on minors is only permitted with court authorisation or documented medical necessity. Our facility ensures full compliance with all national regulations and data protection standards.
4. Is genetic counselling required before this test?
Yes, a pre-test genetic counselling session is mandatory to draw a family pedigree chart, document clinical history, and ensure informed consent. Post-test counselling is also provided to help interpret results and discuss implications.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
This test is performed in full compliance 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 genetic data is encrypted, access-restricted, and processed under strict confidentiality protocols. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | KIAA0586 Gene (Joubert Syndrome Type 23) Next-Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or One-drop Blood on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene coverage |
| ICD-10-CM Code | Q04.3 |
| LOINC Code | 50396-9 |
| DHA Facility License & Address | DHA License No: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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