Test Price
2,800 AED✅ Home Collection Available
COL15A1 Gene Early-Onset Glaucoma, Phenotype Modifier, COL15A1‑Related Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary & Local Assurance
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited NGS laboratory – results you and your ophthalmologist can trust.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM – your sample handled with utmost care from doorstep to sequencer.
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation, connecting you directly with genetic counsellors and Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA: 9294403).
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 – we liaise with your insurer for seamless approval.
Test Overview & Methodology
This next‑generation sequencing (NGS) test thoroughly examines the entire coding region of the COL15A1 gene to identify pathogenic variants associated with early‑onset glaucoma and its phenotypic modifier effects. Delivered in 3–4 weeks, it empowers precise risk stratification, informing tailored surveillance and intervention plans for you and at‑risk relatives. The COL15A1 gene encodes collagen type XV alpha‑1 chain, essential for maintaining ocular basement membrane integrity and intraocular pressure regulation. Pathogenic variations disrupt the extracellular matrix of the trabecular meshwork and retina, predisposing carriers to early‑onset open‑angle glaucoma.
| Feature | Our COL15A1 NGS Test | Closest Alternative (Standard Eye Exam) |
|---|---|---|
| Precision | Full gene sequencing – detects single nucleotide variants, indels, and copy number changes with >99.9% analytical sensitivity | Optic disc photography, IOP measurement – no genetic insight, misses pre‑symptomatic risk |
| Method | NGS (Illumina platform), bioinformatically aligned to GRCh38, clinically interpreted per ACMG guidelines | Slit‑lamp examination, tonometry, perimetry |
| Speed | 3–4 weeks from sample receipt | Immediate clinical results, but no genomic data |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specializing in ophthalmic genetics, I interpret COL15A1 variants as risk-modifying factors rather than deterministic diagnoses. A pathogenic finding indicates an elevated susceptibility to early-onset glaucoma, necessitating lifelong ophthalmologic surveillance including tonometry and optic nerve imaging. Predictive testing for asymptomatic first-degree relatives should follow a structured genetic counselling protocol. This molecular insight, when correlated with clinical phenotype, enables personalized screening intervals and early intervention strategies that may preserve vision across generations.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
Patients currently using intraocular pressure-lowering medications must continue their prescribed regimen unless explicitly directed by their treating ophthalmologist. Abrupt discontinuation of glaucoma therapy may precipitate irreversible optic nerve damage. This genetic test provides risk assessment data and is not a substitute for clinical management decisions.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Testing is deferred for individuals with acute febrile illness, active ocular infection, or those unable to provide informed consent. Legal guardian consent is mandatory for minors under 18 years per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags – Seek immediate ER care if you experience: sudden vision loss, severe unilateral eye pain with nausea, rainbow-colored halos around lights, or corneal edema suggestive of acute angle-closure glaucoma. These are medical emergencies unrelated to the genetic result.
Patient FAQ & Clinical Guidance
1. What is the COL15A1 gene and how does it influence early-onset glaucoma risk?
The COL15A1 gene encodes collagen type XV alpha‑1 chain, a structural protein critical for maintaining the integrity of the trabecular meshwork and retinal basement membrane. Pathogenic variants in this gene compromise extracellular matrix stability, leading to elevated intraocular pressure and increased susceptibility to primary open-angle glaucoma before age 40. This NGS test identifies such variants with high precision, enabling early risk stratification for you and your family members. Cascade screening of first-degree relatives is recommended following genetic counselling.
2. What does the genetic testing process involve from sample collection to result delivery?
Our certified phlebotomist collects a peripheral whole blood sample at your preferred location between 8 AM and 11 PM using temperature-controlled cold-chain transport. No fasting or special preparation is required. The laboratory extracts genomic DNA and sequences all coding exons of COL15A1 on an Illumina NGS platform with >99.9% analytical sensitivity. Bioinformatic analysis aligns reads to GRCh38 and variant interpretation follows ACMG standards. Results are delivered within 3–4 weeks in a comprehensive report that includes variant classification, clinical correlation, and management recommendations. A telephonic post-test counselling session with our genetics team is included.
3. How should I interpret my test results and what steps should I take for my family?
A pathogenic or likely pathogenic variant in COL15A1 indicates elevated susceptibility to early-onset glaucoma, not a definitive diagnosis. Clinical correlation with intraocular pressure, optic nerve morphology, and family history is essential. We recommend sharing your report with a glaucomatologist for a personalized surveillance plan, which may include annual optical coherence tomography and visual field testing. First-degree relatives who may be at risk should undergo predictive testing only after pre-test genetic counselling. All results and family data are handled in strict compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning health ICT use.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with the following UAE federal regulations:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of your genetic and health data with explicit consent and data minimization principles.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – ensuring secure electronic health information exchange and telemedicine governance.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing the framework for informed consent, clinical responsibility, and patient safety in genetic testing.
All laboratory processes are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). Your data remains confidential and is never shared with third parties without your explicit written authorization. You retain the right to access, correct, or request deletion of your genetic data as per PDPL Article 14.
Clinical & Logistical Metadata
| Test Name | COL15A1 Gene Early-Onset Glaucoma, Phenotype Modifier, COL15A1‑Related Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood, dried blood spots (FTA card), or previously extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina platform, GRCh38 alignment, ACMG variant interpretation |
| ICD-10-CM Code | H40.1390 (Primary open-angle glaucoma, unspecified eye, moderate stage), H40.0 (Glaucoma suspect), Z15.8 (Genetic susceptibility to other specified disease) |
| LOINC Code | 103105-3 (COL15A1 gene mutations tested for in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE |
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ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians