Test Price
2,800 AEDโ Home Collection Available
BBS9 Gene Bardet-Biedl Syndrome Type 9 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Advanced molecular diagnostics for Bardet-Biedl syndrome type 9 with 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- โAccuracy Guarantee: 99.9% diagnostic sensitivity and specificity using next-generation sequencing covering all coding and deep intronic regions.
- โPremium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, or secure sample drop-off at our Dubai Healthcare City facility.
- โClinical Guidance: Telephonic post-test counselling and result interpretation by DHA-licensed medical geneticists.
- โInsurance & Support: Direct billing verification via WhatsApp at +971 54 548 8731 (support available at +971545488731).
Test Overview & Methodology
The BBS9 Gene Bardet-Biedl Syndrome Type 9 Genetic Test uses next-generation sequencing (NGS) to detect pathogenic variants in the BBS9 gene, enabling precise diagnosis of this multisystem ciliopathy. This test provides definitive molecular confirmation when clinical features such as polydactyly, retinal dystrophy, obesity, hypogonadism, and renal anomalies are present. Results guide lifelong management including ophthalmologic, nephrologic, and endocrine surveillance.
| Feature | Our Test (NGS โ Gold Standard) | Closest Alternative (SingleโGene Sanger) |
|---|---|---|
| Precision | >99.9% sensitivity and specificity; full gene coverage including deep intronic regions and CNV detection | ~95% sensitivity; may miss large deletions, duplications, and deep intronic variants |
| Method | NextโGeneration Sequencing (NGS) with bioinformatic variant annotation | Conventional polymerase chain reaction and Sanger sequencing |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
| Sample Types | Peripheral whole blood, extracted DNA, or one drop blood on FTA card | Whole blood only |
| Price | 2,800 AED | 2,500 โ 3,000 AED |
Physician Insight & Safety Protocols
โAs a consultant in medical genetics, I recognise the profound impact a molecular diagnosis of Bardet-Biedl syndrome has on a family. This NGS-based test provides high-confidence variant detection that is essential for accurate genetic counselling and anticipatory clinical care. However, a negative result does not exclude the condition if clinical features are compelling, and all findings must be interpreted within the full context of physical examination, family history, and multidisciplinary assessment. I strongly recommend post-test genetic counselling to discuss surveillance for retinal, renal, and endocrine complications.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory โ Medication and Clinical Management
Critical Safety Information
Do not discontinue or alter any prescribed medication without consulting the treating physician. This genetic test does not replace ongoing specialist management by your paediatrician, nephrologist, endocrinologist, or ophthalmologist.
All clinical testing and patient consent procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring your rights and safety throughout the diagnostic process.
Exclusion Criteria & When to Seek Emergency Care
Eligibility and Urgent Clinical Signs
- Exclusion: Not intended for asymptomatic individuals without a clinical suspicion of Bardet-Biedl syndrome or a known familial pathogenic variant.
- Exclusion: This test does not detect every possible genetic alteration; a negative result does not rule out the condition if clinical features are compelling. Further evaluation by a medical geneticist is advised.
- Emergency Red Flag: If you or your child experiences sudden vision loss, severe difficulty breathing, or signs of acute kidney failure (e.g., no urine output, confusion, swelling), proceed to the nearest emergency department immediately. Do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What exactly does the BBS9 gene test check for?
This test analyzes the entire BBS9 gene using next-generation sequencing to detect pathogenic variants that cause Bardet-Biedl syndrome type 9. It provides a definitive molecular diagnosis when clinical features such as polydactyly, retinal dystrophy, obesity, hypogonadism, and renal anomalies are present. The test also identifies carrier status for at-risk family members.
2. How is the sample collected and is home service available?
A certified phlebotomist collects a peripheral blood sample at your home, office, or hospital using temperature-controlled cold-chain logistics. Alternatively, a single drop of blood on an FTA card or previously extracted DNA can be submitted. VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM. All collections follow ISO-certified protocols for specimen integrity.
3. What does a positive result mean and what are the next steps?
A positive result confirms the diagnosis of Bardet-Biedl syndrome type 9. You will receive a tele-counselling session with a DHA-licensed medical geneticist to discuss the implications, cascade testing for family members, and referrals to paediatric nephrology, endocrinology, ophthalmology, and cardiology specialists for comprehensive management.
4. Can a negative result rule out Bardet-Biedl syndrome?
A negative result significantly reduces the likelihood of BBS9-related Bardet-Biedl syndrome, but it does not completely exclude the condition. If clinical features are strongly suggestive, further genetic testing including whole-exome sequencing or analysis of other BBS genes may be warranted. Always discuss results with a medical geneticist.
5. How long does it take to get results and how are they delivered?
The turnaround time is 3 to 4 weeks from sample receipt. Results are delivered electronically via a secure patient portal and a hard copy is provided. A telephonic post-test counselling session is scheduled to explain the findings, their clinical significance, and recommended follow-up actions.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance: This service operates 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 and personal data are encrypted, access-controlled, and processed within secure UAE-based infrastructure.
Clinical Safety & Consent: All testing procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed consent, patient safety, and professional accountability throughout the diagnostic pathway.
Laboratory Accreditation: Performed in an ISO 9001:2015 certified laboratory (Cert: INT/EGQ/2509DA/3139) with rigorous quality control and continuous proficiency testing.
Clinical & Logistical Metadata
| Test Name | BBS9 Gene Bardet-Biedl Syndrome Type 9 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or one drop blood on FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.8, Z15.89, Z13.7 |
| LOINC Code | 81247-8 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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