Test Price
2,800 AED✅ Home Collection Available
BBS2 Gene Bardet‑Biedl Syndrome Type 2 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
The BBS2 Gene Bardet-Biedl Syndrome Type 2 NGS Test is a comprehensive, once-in-a-lifetime DNA analysis that screens the entire coding region of the BBS2 gene for pathogenic variants causing the multisystem ciliopathy known as Bardet-Biedl syndrome. This test serves clinical genetics, pediatric nephrology, endocrinology, and ophthalmology by confirming the molecular diagnosis and guiding lifelong surveillance.
- Accuracy: Diagnostic sensitivity >99.5% across coding regions, splice sites, and deep intronic mutations.
- Turnaround Time: 3–4 weeks from sample receipt.
- Sample Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic consultation with a Consultant Medical Geneticist included.
- Insurance: Direct verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This test utilises Next Generation Sequencing (NGS) with high-depth coverage (≥100x) to detect single nucleotide variants, small insertions/deletions, and copy number variations (CNVs) in the BBS2 gene. The methodology includes targeted enrichment, paired-end sequencing, and bioinformatic analysis against reference genome GRCh38. Confirmation of clinically significant variants is performed by Sanger sequencing when required. The test is accredited under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and fully compliant with DHA and MOHAP standards.
| Feature | Our BBS2 NGS Test | Closest Alternative (Sanger Single-Gene) |
|---|---|---|
| Technology | Next Generation Sequencing (NGS) with high coverage & copy number detection | Sanger sequencing of exons only; limited CNV sensitivity |
| Detection Rate | >99.5% for coding & splice site variants; detects deep intronic mutations | ~95% for point mutations; often misses large rearrangements |
| Turnaround Time | 3–4 Weeks | 4–8 Weeks |
| Sample Types | Whole Blood, Extracted DNA, FTA Card (one drop) | Whole Blood or Extracted DNA |
| Accreditation | ISO 9001:2015, DHA/MOHAP compliant | Varies |
Physician Insight & Safety Protocols
Insight from Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA 9294403): A positive BBS2 test does not stand alone; it must be interpreted within the full clinical context—renal function, retinal exams, and endocrine workup. I counsel every patient that genetic results guide surveillance, not destiny, and multidisciplinary care is essential. Please involve a clinical geneticist to explain implications for family members.
Safety Advisory & Genetic Counselling
Do not discontinue any prescribed medication without consulting your physician. A mandatory pre-test genetic counselling session (virtual or in-person) is provided to draw a pedigree of affected family members and discuss the test’s scope, limitations, and potential outcomes. No dietary restrictions; patients should continue their usual medications unless advised otherwise by a specialist. Avoid anticoagulants (as directed by your doctor) if a whole blood sample is required; a single-drop FTA card may be a suitable alternative for patients on anti-coagulation.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Asymptomatic individuals undergoing screening without prior genetic counselling; patients who have received a bone marrow transplant in the last 6 months (may affect DNA source).
- Exclusion: Unstable acute illness requiring hospitalisation at time of sample collection.
- ER Red Flag: Sudden vision loss, acute flank pain, decreased urine output, or signs of kidney failure—seek emergency care immediately.
- ER Red Flag: Severe respiratory distress in an obese child with snoring/apnea—call 998 or visit ER.
Patient FAQ & Clinical Guidance
1. What is the BBS2 Gene Bardet-Biedl Syndrome Type 2 test and what does it detect?
This Genetic Test sequences the entire BBS2 gene to identify disease-causing mutations responsible for Bardet-Biedl syndrome type 2, a multisystem ciliopathy that can affect the kidneys, eyes, weight, and hormonal balance.
2. Who should consider this test and is it right for me or my child?
Individuals with clinical features such as retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, or renal abnormalities should consider this test, along with family members of affected patients seeking carrier or presymptomatic diagnosis after genetic counselling.
3. How is the test performed, and what does the sample collection involve?
A simple blood draw, a single drop of blood on an FTA card, or a prepurified DNA sample is collected by a certified phlebotomist during a hospital-grade home visit (8 AM – 11 PM) using an ISO-certified cold chain, with results available in 3–4 weeks.
4. What pre-test preparations are required?
A detailed clinical history form including previous renal, ophthalmic, and endocrine evaluations must be completed. Mandatory pre-test genetic counselling is provided. No dietary restrictions; continue usual medications unless advised otherwise. If whole blood is required, avoid anticoagulants as directed; an FTA card may be substituted.
UAE Regulatory & Data Privacy Adherence
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, ensuring secure handling, storage, and transmission of sensitive genetic data. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143. For appointments, insurance checks, or genetic counselling: contact +971 54 548 8731 (WhatsApp/call).
Clinical & Logistical Metadata
| Test Name | BBS2 Gene Bardet-Biedl Syndrome Type 2 NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, FTA Card (one drop) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM daily) |
| Methodology Used | Next Generation Sequencing (NGS) with CNV detection |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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