Test Price
2,800 AED✅ Home Collection Available
BBS5 Gene Bardet-Biedl Syndrome Type 5 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity – ISO-certified Next Generation Sequencing (NGS) with deep coverage.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM - 11 PM) by licensed phlebotomists.
- Post-Test Clinical Guidance – Telephone consultation with a DHA-licensed physician.
- Direct Billing Verification – WhatsApp +971 54 548 8731 to confirm insurance.
Test Overview & Methodology
This advanced genetic test analyses the BBS5 gene for pathogenic variants associated with Bardet‑Biedl syndrome type 5, a ciliopathy affecting the liver, kidneys, and endocrine system. Early genetic diagnosis enables precision management and family planning under UAE healthcare guidelines.
| Feature | Our Test (BBS5 NGS) | Standard BBS Panel (Multi‑Gene) |
|---|---|---|
| Precision | Single‑gene deep coverage (≥100x), detects SNVs, indels, CNVs | Panel may miss rare BBS5 variants; limited CNV resolution |
| Methodology | Next Generation Sequencing (NGS) with proprietary bioinformatics pipeline | Often Sanger sequencing or MLPA, slower and less comprehensive |
| Speed | 3–4 Weeks from sample receipt | 4–6 Weeks typical |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403: “This test provides critical information for the diagnosis of Bardet-Biedl syndrome type 5. It should be interpreted in the context of the patient's complete clinical presentation and family history. Pre-test genetic counseling is essential to discuss the implications of possible results for the patient and their relatives.”
Safety Advisory
⚠️ Do not discontinue any prescribed medication without consulting your treating physician. This test is diagnostic, not therapeutic.
Patient Safety Exclusion & Red Flags
- Exclusion Criteria: Not suitable for acute medical emergencies; requires a pre‑test genetic counselling session to draw a pedigree chart; not a replacement for comprehensive newborn screening.
- ER Red Flags: Seek immediate emergency care if the patient develops sudden renal failure, acute liver decompensation, or rapid vision loss.
Patient FAQ & Clinical Guidance
1. What is the BBS5 genetic test and who should consider it?
The BBS5 genetic test is a next‑generation sequencing DNA analysis that identifies mutations in the BBS5 gene causing Bardet‑Biedl syndrome type 5, recommended for individuals with suggestive clinical features or family history of ciliopathies. This includes patients with obesity, polydactyly, renal abnormalities, retinal dystrophy, or hypogonadism. A positive result allows targeted surveillance and genetic counselling.
2. How accurate is the BBS5 NGS test, and what does a positive result mean?
Our ISO‑certified NGS test achieves 99.9% diagnostic sensitivity for BBS5 variants, and a positive result confirms the molecular diagnosis, guiding further endocrine, hepatorenal, and ophthalmologic surveillance. It can differentiate homozygous, compound heterozygous, or de novo mutations, and is interpreted by DHA‑licensed clinical geneticists. A negative result does not exclude other genetic causes of the phenotype.
3. What are the sample requirements and turnaround time?
The test requires a simple blood draw (EDTA tube), extracted DNA, or a single‑drop blood on FTA card, with a turnaround time of 3–4 weeks from sample receipt. Home collection is available across the UAE with cold‑chain transport. Pre‑genetic counselling and a completed clinical history form are mandatory.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance: This service adheres to 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 safety and patient consent comply with Federal Decree‑Law No. 4 of 2016 on Medical Liability. Laboratory facility licensed by DHA (License 1143) and holds ISO 9001:2015 certification.
Clinical & Logistical Metadata
| Test Name | BBS5 Gene Bardet-Biedl Syndrome Type 5 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral blood (EDTA), extracted DNA, or FTA card |
| Methodology Used | Next Generation Sequencing (NGS) with proprietary bioinformatics pipeline |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians