Test Price
2,800 AED✅ Home Collection Available
BEST1 Gene Bestrophinopathy Genetic Test in UAE – 2800 AED – DNA Labs UAE
Executive Summary & Core Metrics
- Diagnostic Sensitivity: 99.9% via ISO 15189 accredited Next Generation Sequencing (NGS) with Sanger confirmation and MLPA backup for deletion/duplication analysis.
- Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM (paid service).
- Clinical Guidance: Telephonic post-test interpretation by a Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Turnaround Time: 21–28 business days from sample receipt at laboratory.
Test Overview & Methodology
The BEST1 Gene Bestrophinopathy Genetic Test provides comprehensive molecular analysis of the BEST1 gene, which is associated with Best vitelliform macular dystrophy (BVMD), adult-onset vitelliform macular dystrophy (AVMD), and other bestrophinopathies. The test utilises Next Generation Sequencing (NGS) to sequence the entire coding region and ±20 base pairs of intronic flanks, with Sanger confirmation of all pathogenic variants and MLPA to detect large deletions or duplications. This approach is the gold standard for definitive diagnosis and genetic counselling in inherited retinal disorders.
| Feature | DNA Labs UAE – BEST1 Test | Closest Alternative (limited panels) |
|---|---|---|
| Precision | Full coding region ±20 bp flanks, plus MLPA for CNVs | Single-exon targeted assay (misses many variants) |
| Method | NGS + Sanger confirmation + MLPA triage | Targeted mutation panel (limited variant scope) |
| Turnaround | 21–28 business days | 5–6 weeks (often outsourced) |
Physician Insight & Safety Protocols
"As a clinical geneticist, I recognise the emotional weight of awaiting a molecular diagnosis for a progressive retinal condition. This test provides the clarity needed for accurate prognosis, family counselling, and eligibility assessment for emerging gene therapies. However, results must always be interpreted within the full ophthalmological and family history context. Many bestrophinopathies remain stable for years, and hope is sustained by advancing therapeutic trials."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue, alter, or initiate any medication based on preliminary genetic results without direct consultation with your treating physician or genetic counsellor. This test is a diagnostic aid and does not replace comprehensive clinical assessment.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion – Acute Retinal Emergency: Patients with suspected acute retinal detachment, neovascular glaucoma, or severe intraocular inflammation requiring immediate surgical or medical intervention are not eligible for this test. Proceed directly to an ophthalmology emergency department.
- Exclusion – Consent: Minors (under 18 years) must have written informed consent from a legal guardian as per Federal Decree-Law No. 4 of 2016 on Medical Liability and UAE paediatric research guidelines.
- Emergency Red Flag – Sudden Vision Loss: Sudden, painless, monocular vision loss warrants immediate ophthalmic evaluation (e.g., for retinal artery occlusion or optic neuropathy). This test is not intended for acute diagnostic triage.
- Emergency Red Flag – Ocular Pain: Severe eye pain accompanied by headache, nausea, or halos around lights suggests acute angle-closure glaucoma—seek emergency care without delay.
Patient FAQ & Clinical Guidance
1. What is the accuracy of the BEST1 NGS test for diagnosing Best disease?
A: The test achieves over 99% analytical sensitivity and specificity for detecting point mutations and small insertions/deletions in the BEST1 coding region. With MLPA supplementation, large deletions and duplications are also reliably detected, making this the gold standard molecular diagnostic tool for bestrophinopathies.
2. What sample types are accepted? Can I use saliva?
A: The preferred sample is peripheral whole blood collected in an EDTA tube (3–5 mL). A single dried blood spot on an FTA card is also accepted. Saliva samples are not validated due to lower DNA yield and quality for this specific assay.
3. Can home collection be arranged for this genetic test?
A: Yes, a VIP Mobile Phlebotomy service with temperature-controlled cold-chain transport is available daily from 8 AM to 11 PM across Dubai and select Emirates. This is a paid service that must be scheduled via our WhatsApp line. For patients outside the coverage zone, sample collection can be arranged at any DNA Labs UAE patient service centre.
4. How are results delivered and interpreted?
A: Results are delivered via secure email and a password-protected online portal within 21–28 business days. A telephonic post-test consultation with a Consultant Medical Geneticist is included to explain findings, discuss inheritance patterns, and guide next steps for family testing or clinical management.
5. Does the test detect all known BEST1 mutations?
A: Yes, the NGS panel covers the full coding region (exons 1–11) plus flanking intronic regions to capture splice-site variants. MLPA concurrently detects large deletions or duplications that would be missed by sequencing alone. Together, the combined approach provides >99% detection rate for pathogenic variants in the BEST1 gene.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic data is processed and stored 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.
- Clinical Governance: The test is performed under the oversight of the Dubai Healthcare City Authority (DHCA) and adheres to DHA standards for genetic testing and laboratory accreditation (ISO 15189).
- Informed Consent: Written consent is obtained prior to sample collection, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patients are fully informed about the scope, limitations, and data handling of the genetic test.
- Confidentiality: Results are shared only with the requesting physician and the patient or their legal guardian. No genetic data is disclosed to insurers or employers without explicit written authorisation.
Clinical & Logistical Metadata
| Test Name | BEST1 Gene Bestrophinopathy Genetic Test (NGS + MLPA) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Business Days |
| Sample Type / Matrix | Peripheral Blood (Whole Blood EDTA), Dried Blood Spot (FTA card), or Extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation and MLPA deletion/duplication analysis |
| ICD-10-CM Code | H35.5 (Hereditary retinal dystrophy) |
| LOINC Code | 21655-7 (BEST1 gene mutation analysis) |
| DHA Facility License & Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians