Test Price
2,800 AED✅ Home Collection Available
ADAMTSL4 Gene Sequencing (Isolated Ectopia Lentis) – Diagnostic Test in Dubai
Executive Summary & Core Metrics
Test: ADAMTSL4 Next-Generation Sequencing (NGS)
Price: 2,800 AED
Sample Type: Whole Blood (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM – 11 PM)
Turnaround Time: 3 – 4 Weeks
DHA Facility License: 1143 | Location: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Corporate Lab: DNA Labs UAE
Test Overview & Methodology
This targeted NGS assay analyzes the entire coding region and intron-exon boundaries of the ADAMTSL4 gene. It is designed to detect pathogenic variants responsible for isolated autosomal recessive ectopia lentis, a condition characterized by lens dislocation leading to severe refractive error and glaucoma risk. The test includes comprehensive CNV (copy number variant) detection and mandatory pre-test genetic counselling.
| Feature | DNA Labs UAE ADAMTSL4 Test | Standard Alternative |
|---|---|---|
| Methodology | NGS (≥100× depth, CNV analysis) | Sanger Sequencing (limited exons) |
| Turnaround Time | 3 – 4 Weeks | 6 – 8 Weeks |
| Pre-test Counselling | Included (Mandatory) | Not included / separate |
| Report Detail | Full variant interpretation, pedigree analysis | Binary positive/negative |
Physician Insight & Safety Protocols
“Genetic confirmation of ADAMTSL4-related ectopia lentis is critical for planning safe lensectomy and preventing acute glaucoma. A negative NGS result in a highly suggestive phenotype does not rule out a deep intronic variant or a second locus — whole exome sequencing should then be considered. Results must always be interpreted alongside a full ophthalmic examination and family pedigree.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory & Patient Safety
Mandatory Precautions
- Do not discontinue prescribed glaucoma medications or anticoagulants without consulting your specialist.
- A mandatory genetic counselling session is required before sample collection to discuss implications for at-risk relatives.
- Results require correlation with slit-lamp examination, intraocular pressure measurement, and systemic evaluation to exclude syndromic causes (e.g., Marfan syndrome, homocystinuria).
Exclusion Criteria & Emergency Indicators
Contraindications for Testing
- Absolute Exclusion: Acute febrile illness, blood transfusion within the past 4 weeks.
- Legal Requirement: Minors under 18 years require written consent from a legal guardian as per UAE Federal Law.
- Red Flag Symptoms (Seek Emergency Care): Sudden vision loss, severe ocular pain, acute angle-closure glaucoma, or visible lens dislocation into the anterior chamber. These emergencies must be managed by an ophthalmologist immediately.
Patient FAQ & Clinical Guidance
1. What is isolated ectopia lentis?
Isolated ectopia lentis is a genetic condition where the lens of the eye is displaced (subluxated) due to weakening of the zonular fibers, without involving other body systems. It is primarily caused by mutations in the ADAMTSL4 gene and follows an autosomal recessive inheritance pattern.
2. How is the home collection process managed?
Our DHA-licensed mobile phlebotomy team performs hospital-grade blood draws at your residence across the UAE (Dubai, Abu Dhabi, Sharjah, Northern Emirates) from 8 AM to 11 PM daily. Samples are transported to our ISO 9001:2015 certified laboratory under strict temperature-controlled cold chain logistics.
3. What are the implications for my family members?
Autosomal recessive ectopia lentis requires both parents to be carriers. Siblings have a 25% risk of being affected and a 50% risk of being carriers. Carrier testing and predictive testing for at-risk adults are available through our genetic counselling service.
4. How is my genetic data protected under UAE law?
Your genetic information is handled in strict compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 on ICT Health Fields. Results are shared only with you and your referring physician via a secure, encrypted portal.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: DNA Labs UAE strictly adheres to the 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 clinical procedures and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical Intent: This test is intended for diagnostic confirmation in individuals with clinical suspicion of isolated ectopia lentis. It must be requested by a licensed physician and interpreted by a board-certified clinical geneticist or ophthalmologist.
Data Security: All genomic data is encrypted and stored on UAE-based secure servers. Access is restricted to authorized medical personnel only.
Clinical & Logistical Metadata
| Test Name | ADAMTSL4 Gene Sequencing (Isolated Autosomal Recessive Ectopia Lentis) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral Venipuncture) – VIP Mobile Phlebotomy Available |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV Detection |
| ICD-10-CM Code | Q12.1, H27.1 |
| LOINC Code | 76751-6 |
| DHA License & Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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