Test Price
2,800 AED✅ Home Collection Available
CEP290 Gene Sequencing Test for Bardet-Biedl Syndrome Type 14 in Dubai
Executive Summary & Core Metrics
Executive Summary
Your trusted, DHA‑endorsed CEP290 gene analysis using Next Generation Sequencing (NGS), achieving 99.9% diagnostic sensitivity and ISO 9001:2015‑certified accuracy at DNA Labs UAE. This definitive test identifies pathogenic variants causing Bardet‑Biedl syndrome type 14, guiding ophthalmological surveillance, renal management, and family planning decisions.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (8 AM – 11 PM daily).
- Clinical Guidance: Post‑Test Genetic Counseling by DHA‑licensed Consultant Medical Genetics included.
- Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The CEP290 gene sequencing test employs full‑gene Next Generation Sequencing (NGS) to detect pathogenic variants associated with Bardet‑Biedl syndrome type 14, an autosomal recessive ciliopathy involving retinal degeneration, renal cysts, postaxial polydactyly, and cognitive impairment. The analysis covers all coding exons and splice‑site junctions with deep intronic coverage to maximise variant detection.
| Feature | DNA Labs UAE Test | Closest Alternative |
|---|---|---|
| Method | Full‑gene NGS with high coverage across all exons and intron‑exon boundaries | Multi‑gene panel with partial CEP290 coverage |
| Diagnostic Sensitivity | 99.9% for CEP290 pathogenic variants (including deep intronic and copy‑number variants) | ~95% (may miss less common variant types) |
| Turnaround Time | 21–28 Business Days | 28–42 Business Days |
| Sample Acceptance | Whole blood, extracted DNA, or FTA card – all with validated cold‑chain transport | Whole blood only; FTA cards not routinely accepted |
| Clinical Interpretation | DHA‑licensed genetics specialist & genetic counselor collaborative report | Standard lab report with limited clinical correlation |
| Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) + DHA Facility License 1143 | Often only CAP or non‑ISO certified |
| Price | 2,800 AED | 2,500–3,200 AED (counseling often excluded) |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics practicing in Dubai, I recognize the profound uncertainty that accompanies genetic testing for inherited retinal and renal syndromes. The CEP290 gene encodes a protein vital to primary cilia function; a confirmed pathogenic variant establishes a definitive diagnosis, enabling targeted ophthalmological surveillance, nephrological monitoring, and informed family counseling. However, a negative result does not exclude other ciliopathy genes, and any incidental findings must be reviewed within a multidisciplinary framework. Never modify your prescribed treatment regimen without consulting your managing physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Clinical Advisory
Do not discontinue or alter prescribed medications without consulting your doctor. Abrupt cessation of antihypertensives, hypoglycaemic agents, or ocular therapies may precipitate a hypertensive crisis, diabetic emergency, or acute visual deterioration. Always discuss genetic test results with your treating physician before making any therapeutic changes.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Asymptomatic minors under 18 years require written parental consent and pre‑test genetic counseling in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability. Prenatal testing is not offered without a confirmed parental CEP290 mutation and invasive follow‑up. Patients with acute psychiatric decompensation or inability to provide informed consent are excluded until clinically stable and capable of autonomous decision‑making.
- ER Red Flags – Seek immediate medical attention if you experience: sudden, painless vision loss or a curtain‑like shadow over vision (retinal detachment); severe eye pain with nausea (acute angle‑closure glaucoma); or acute abdominal pain with vomiting (possible renal complication of Bardet‑Biedl syndrome). These symptoms require emergency evaluation, not genetic test interpretation.
Patient FAQ & Clinical Guidance
1. What does the CEP290 gene test detect?
The CEP290 NGS test identifies mutations causing Bardet‑Biedl syndrome type 14, a ciliopathy affecting the retina, kidneys, and limbs. This comprehensive analysis screens the entire coding sequence and splice sites for pathogenic variants linked to this autosomal recessive disorder. Results are essential to confirm a clinical diagnosis, guide ophthalmological follow‑up, and inform reproductive options. A definitive molecular finding enables eligibility assessment for emerging gene therapies and clinical trials.
2. How is the sample collected, and do you offer home collection?
DNA Labs UAE offers VIP Mobile Phlebotomy and Temperature‑Controlled Cold‑Chain Home Collection for this genetic test, available daily from 8 AM to 11 PM. A DHA‑licensed phlebotomist visits your location to draw a small peripheral blood sample or obtain a painless FTA card spot. The specimen is immediately placed in a validated temperature‑controlled container, preserving DNA integrity during transit to our ISO‑certified laboratory for the 3‑ to 4‑week processing period.
3. How long until I receive my results, and what happens afterwards?
Results are available within 21 to 28 business days, followed by a mandatory post‑test genetic counseling session conducted by a DHA‑licensed Consultant Medical Genetics. During this tele‑consultation, the specialist explains the findings, discusses implications for family members, and arranges referrals to appropriate ophthalmologists and nephrologists. This session fulfills UAE regulatory requirements for informed post‑test care under Federal Decree‑Law No. 4 of 2016 on Medical Liability.
4. What is the price of the CEP290 gene sequencing test?
The total cost for the CEP290 gene sequencing test is 2,800 AED, which includes full‑gene NGS analysis, ISO‑compliant processing, home collection logistics, and a mandatory post‑test genetic counseling session. Direct billing verification via WhatsApp (+971 54 548 8731) is available for eligible insurance plans.
5. Who should consider this genetic test?
This test is appropriate for individuals with clinical features suggestive of Bardet‑Biedl syndrome, including retinitis pigmentosa, truncal obesity, postaxial polydactyly, renal anomalies, and learning difficulties. It is also recommended for first‑degree relatives of an index case for carrier testing and family planning. Pre‑test genetic counseling is mandatory to discuss implications, limitations, and the potential for incidental findings.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with UAE federal data protection and healthcare regulations. All genetic data is processed and stored in 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. Clinical consent, specimen handling, and result disclosure follow the requirements of Federal Decree‑Law No. 4 of 2016 on Medical Liability. Your genetic information is encrypted, access‑controlled, and never shared with third parties without your explicit written consent. DNA Labs UAE is DHA‑licensed (Facility License 1143) and ISO 9001:2015 certified, ensuring the highest standards of quality and confidentiality.
Clinical & Logistical Metadata
| Test Name | CEP290 Gene Sequencing Test for Bardet-Biedl Syndrome Type 14 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Business Days |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 82939-0 |
| DHA Facility License & Laboratory Address | License 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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