Test Price
2,800 AED✅ Home Collection Available
ADAMTSL4 Gene Ectopia Lentis et Pupillae Genetic Test in UAE | 2800 AED | DHA Lic. 1143
Executive Summary & Core Metrics
Clinical Certainty: Diagnostic sensitivity >99.9% via ISO-certified Next-Generation Sequencing (NGS) processing. Includes full gene sequencing of ADAMTSL4, aligned with current ACMG and global standards.
Premium Logistics: VIP Mobile Phlebotomy – hospital-grade home collection available daily from 8 AM to 11 PM with ISO-certified cold-chain transport.
Post-Test Guidance: Complimentary telephonic clinical interpretation with a DHA-licensed medical genetics consultant.
Insurance & Billing: Direct insurance verification via WhatsApp at +971 54 548 8731 (pre-approval in 60 minutes).
Test Overview & Methodology
The ADAMTSL4 NGS test detects pathogenic variants in the ADAMTSL4 gene, which cause ectopia lentis et pupillae – a congenital displacement of the lens and pupil often presenting with severe refractive errors, glaucoma, or retinal detachment. This analysis empowers ophthalmologists and families with actionable genetic data for early surgical planning and familial risk assessment.
| Feature | This Test (NGS) | Closest Alternative (Single-gene Sanger) |
|---|---|---|
| Detection Coverage | Full gene: exons, flanking introns, deep intronic known variants | Limited to a few exons; misses deep intronic changes |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Clinical Utility | Differentiates ELP syndrome from Marfan homocystinuria; carrier screening | Often cannot resolve overlapping phenotypes |
Physician Insight & Safety Protocols
"Every ectopia lentis case deserves a definitive molecular diagnosis. This test not only confirms the ADAMTSL4-related syndrome but also guides surgical timing and genetic counselling for siblings. Clinical correlation with full ocular and systemic examination is essential for accurate interpretation."
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Medication Advisory
Medication Continuity
Do not discontinue any prescribed medication, including anticoagulants or glaucoma drops, before sample collection without explicit written clearance from your treating physician. This test does not replace ongoing ophthalmic care.
- Exclusion Criteria: Active systemic infection requiring hospitalisation; known allergy to venipuncture materials (non-latex alternatives available).
- Emergency Red Flags: Sudden vision loss, acute eye pain, severe headache, or flashing lights within 48 hours of sample collection – seek emergency eye care immediately and reschedule the blood draw.
Exclusion Criteria
⚠️ Pre-Test Safety Check: Active systemic infection requiring hospitalisation or known allergy to venipuncture materials (non-latex alternatives may be arranged) may preclude standard collection.
Patient FAQ & Clinical Guidance
1. What does the ADAMTSL4 NGS test diagnose, and how does it influence treatment?
Snippet: This test identifies pathogenic ADAMTSL4 mutations causing ectopia lentis et pupillae, enabling precise surgical planning and risk stratification for retinal complications.
Results are interpreted alongside clinical findings; a positive test confirms the syndrome and allows cascade screening in at-risk relatives.
2. How do I prepare for the blood draw and is home collection available?
Snippet: You do not need to fast; simply provide a completed clinical history form and pedigree chart, then our DHA-licensed phlebotomist will visit your home between 8 AM and 11 PM.
The genetic counselling session (included in the price) can be conducted via video call before or after the sample collection to draw the detailed family pedigree.
3. Is this test covered by UAE insurance and how long do results take?
Snippet: Many UAE insurers reimburse genetic testing for congenital eye disorders; we offer direct billing verification and the final report is delivered within 3–4 weeks.
Once authorised, you receive a secure electronic report and a telephonic consultation with Lina Quteineh to explain the findings and next steps.
UAE Regulatory & Data Privacy Adherence
This test is fully compliant 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 patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic counselling is performed by DHA-licensed professionals.
Clinical & Logistical Metadata
| Test Name | ADAMTSL4 Gene Ectopia Lentis et Pupillae Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) – VIP Mobile Phlebotomy available |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene, including exons, flanking introns, and known deep intronic variants |
| ICD-10-CM Code | Q12.1, H27.1 |
| LOINC Code | 51234-5 |
| DHA Facility License & Laboratory Address | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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