Test Price
2,800 AED✅ Home Collection Available
BBS12 Gene (Bardet-Biedl Syndrome Type 12) Genetic Test in Dubai | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Sensitivity: 99.9% via ISO 9001:2015 certified NGS processing.
- Sample Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary post-test tele-consultation with a DHA-licensed consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The BBS12 NGS test identifies pathogenic variants in the BBS12 gene, confirming Bardet-Biedl syndrome type 12, a ciliopathy affecting kidneys, liver, and endocrine systems. This targeted analysis uses next-generation sequencing with full coverage of all coding exons, splice sites, and selected intronic regions to achieve a diagnostic yield exceeding 99% for BBS12-related variants.
| Feature | Our Test (NGS Panel) | Sanger Sequencing (Single Gene) |
|---|---|---|
| Methodology | Next-Generation Sequencing (full gene coverage) | Sanger sequencing (targeted exons only) |
| Turnaround Time | 3-4 Weeks | 6-8 Weeks |
| Diagnostic Yield | >99% for BBS12 coding region | ~85% (misses deep intronic variants) |
| Sample Types | Whole Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA Card) | Whole Blood (EDTA) only |
Physician Insight & Safety Protocols
"BBS12 is one of 21 known genes associated with Bardet-Biedl syndrome. The NGS-based approach enables simultaneous assessment of all coding exons, splice sites, and selected intronic regions. A molecular diagnosis provides a definitive foundation for surveillance of renal, ophthalmic, and metabolic complications. Results should always be evaluated within the context of complete clinical and family history."
— Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory on Treatment Continuity
This genetic analysis is intended for diagnostic confirmation and risk assessment. Do not modify or discontinue any prescribed treatment regimen without direct authorization from your managing physician. The test outcome does not constitute a treatment plan.
Exclusion Criteria & Emergency Indicators
- Contraindications for blood collection: active anticoagulant therapy with INR exceeding 2.0, known bleeding disorders, acute systemic infection, or age under 6 months.
- Seek emergency medical attention for: sudden deterioration of vision, complete urinary output cessation, repeated vomiting, or neurological changes such as confusion or seizure.
Patient FAQ & Clinical Guidance
1. What is the BBS12 genetic test used for?
The BBS12 NGS test detects pathogenic variants in the BBS12 gene, confirming a diagnosis of Bardet-Biedl syndrome type 12 and guiding targeted surveillance for renal, ophthalmic, and endocrine complications. It is indicated for individuals presenting with retinitis pigmentosa, polydactyly, obesity, renal anomalies, or hypogonadism. The test also supports carrier detection in at-risk family members and prenatal diagnosis when a familial variant is already characterized.
2. How is the sample collected and what preparation is needed?
A certified DHA phlebotomist performs a home visit to obtain 2-3 mL of whole blood in an EDTA tube or a finger-prick dried blood spot on an FTA card. Fasting is not required. If an extracted DNA sample is provided, it must meet quality standards (A260/A280 ratio of 1.8-2.0). Pre-test genetic counselling is mandatory to document a three-generation family pedigree. Collection appointments are available daily from 8 AM to 11 PM.
3. What do the results mean and how are they delivered?
A positive result identifies a known or likely pathogenic variant, establishing a molecular diagnosis and enabling personalized management and cascade family screening. A negative result reduces the probability of BBS12-related disease but does not exclude it entirely due to the possibility of variants in other Bardet-Biedl syndrome-associated genes or undetected regulatory mutations. All reports are interpreted by a molecular geneticist with variant classification per ACMG guidelines, and include implications for relatives and follow-up recommendations. A telephonic consultation is scheduled to explain the findings.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates under the regulatory framework of the Dubai Health Authority (DHA) Facility License Number 1143. Patient genetic data is processed 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. Clinical safety and consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic test results are stored on encrypted servers with restricted access protocols aligned with international standards for genomic data confidentiality.
Clinical & Logistical Metadata
| Test Name | BBS12 Gene (Bardet-Biedl Syndrome Type 12) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coverage |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 103204-9 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians