Test Price
2,800 AEDโ Home Collection Available
BBS1 Gene Bardet-Biedl Syndrome Type 1 Genetic Test (NGS) in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
DNA Labs UAE delivers a comprehensive next-generation sequencing (NGS) analysis of the BBS1 gene for definitive diagnosis of Bardet-Biedl Syndrome Type 1. Our service integrates ISO 9001:2015 accredited laboratory processing with full genetic counselling support, premium mobile phlebotomy logistics, and direct insurance verification.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This NGS-based assay sequences the complete coding regions and exon-intron boundaries of the BBS1 gene to detect pathogenic variants causative of Bardet-Biedl Syndrome Type 1, a multisystem ciliopathy characterised by retinal dystrophy, obesity, polydactyly, renal anomalies, and cognitive impairment. Full-gene coverage ensures identification of missense, nonsense, frameshift, splice-site, and deep intronic variants with analytical sensitivity exceeding 99.9%.
| Feature | Our Test (BBS1 NGS) | Standard Genetic Panel |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity | Variable; may miss deep intronic variants |
| Method | Next Generation Sequencing (NGS) with full exon coverage | Often limited to targeted hot-spot panels |
| Turnaround | 3โ4 Weeks | 4โ6 Weeks (varies) |
| Clinical Support | Genetic counselling included; post-test teleconsultation | Often absent or limited |
Physician Insight & Safety Protocols
โBardet-Biedl Syndrome Type 1 requires comprehensive molecular confirmation through full-gene sequencing. The NGS approach offers superior diagnostic yield compared to targeted panels, particularly for detecting compound heterozygous variants. Genetic counselling both pre- and post-test is essential to accurately interpret results and guide family planning decisions.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Note
Do not discontinue or alter any prescribed medication on the basis of a genetic test result without consulting your treating physician. This test provides diagnostic information and does not replace clinical management or specialist follow-up.
Patient Safety & Exclusion Criteria
- Exclusion: Individuals unable to provide a valid blood or DNA sample, including those with active severe coagulation disorders contraindicating phlebotomy.
- Exclusion: Minors without legal guardian consent; pregnant individuals require additional pre-test counselling in accordance with UAE regulatory frameworks.
- ER Red Flag: If the patient develops acute renal failure, sudden severe visual loss, or complications related to polydactyly while awaiting results, proceed to the nearest Emergency Department immediately.
Patient FAQ & Clinical Guidance
1. What is the BBS1 Gene Bardet-Biedl Syndrome Type 1 Genetic Test?
This advanced genetic test uses next-generation sequencing to scan the complete BBS1 gene for mutations that cause Bardet-Biedl Syndrome Type 1. It is the most comprehensive method available to confirm a clinical diagnosis, differentiate from other ciliopathies, and inform genetic counselling for at-risk family members.
2. How is the sample collected and what preparation is required?
A licensed phlebotomist collects a peripheral blood sample at your home or office via our VIP Mobile Phlebotomy service. Prior to collection, a mandatory genetic counselling session is scheduled to obtain a detailed clinical pedigree and to ensure fully informed consent. No special dietary or medication preparation is needed, but you should continue all prescribed therapies unless advised otherwise by your physician.
3. Can this test be used for prenatal or carrier screening, and how is my genetic data protected?
While primarily a diagnostic test, results can inform carrier screening for family planning when interpreted within a formal genetic counselling framework. All genetic data is stored on ISO 9001:2015 certified systems and processed in 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. Your data is never shared without your explicit written consent.
UAE Regulatory & Data Privacy Adherence
Your Genetic Data Is Protected Under UAE Law
DNA Labs UAE operates under DHA Facility License No. 1143 and strictly complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient genetic information. Our laboratory information management systems also adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring end-to-end encryption, access controls, and audit trails. Clinical safety and patient consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | BBS1 Gene Bardet-Biedl Syndrome Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks (21โ28 Days) |
| Sample Type / Matrix | Whole Blood (Peripheral) or Extracted DNA / FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) โ Full Exon Coverage with Sanger Confirmation |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes affecting multiple systems) |
| LOINC Code | 94267-3 (BBS1 gene full mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians