Test Price
3,200 AED✅ Home Collection Available
Microphthalmia / Anophthalmia / Coloboma Spectrum (MAC) Genetic Sequencing Test in UAE | 3200 AED | Clinically Validated
Executive Summary & Core Metrics
Test Overview & Methodology
This comprehensive next‑generation sequencing (NGS) panel, confirmed by Sanger sequencing, analyses all known genes associated with microphthalmia, anophthalmia, and coloboma (MAC). The test provides definitive molecular diagnosis to guide treatment, genetic counselling, and developmental support for patients of all ages.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision | Dual‑confirmation NGS + Sanger sequencing; variant‑level accuracy | Single‑gene sequencing or phenotype‑only PCR, may miss complex alleles |
| Method | Next Generation Sequencing on Illumina platform with orthologous validation | Sanger sequencing of one or two genes; no copy‑number detection |
| Speed | 45 Working Days TAT; comprehensive interpretive report | 60+ Working Days; limited clinical annotation |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I recognise the profound anxiety families experience when confronting congenital eye anomalies. This genetic test provides definitive molecular answers to guide treatment and genetic counselling, yet it must always be interpreted alongside a comprehensive clinical evaluation. Early diagnosis paves the way for timely interventions that can preserve vision and enable developmental support.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Safety
⚠️ Medication Warning
Do not discontinue any prescribed medication without first consulting your treating physician.
Safety Exclusion & ER Red Flags
🛑 Exclusion Criteria
- Exclusion: Patients who are hemodynamically unstable or unable to provide a valid Whole Exome Sequencing Consent Form (Form 37) signed by a legal guardian (mandatory for minors).
- ER Red Flags: Sudden vision loss, severe eye pain, or signs of raised intracranial pressure (persistent vomiting, lethargy) require immediate emergency attention; do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the Microphthalmia / Anophthalmia / Coloboma Spectrum (MAC) genetic test?
This is a comprehensive genetic panel that simultaneously analyses all known genes associated with microphthalmia, anophthalmia, and coloboma using next‑generation sequencing with Sanger confirmation. It provides a definitive molecular diagnosis to guide treatment, genetic counselling, and developmental support.
2. Why does the test take 45 working days?
The 45‑day turnaround ensures meticulous NGS sequencing, bioinformatic analysis, variant interpretation by clinical geneticists, and Sanger validation of all reported pathogenic findings, guaranteeing the highest accuracy for your report.
3. Can my insurance cover the 3200 AED cost?
Many UAE insurers cover medically necessary genetic testing for congenital eye anomalies. Our direct billing team verifies your policy instantly via WhatsApp at +971 54 548 8731.
4. What sample is needed and how is it collected?
A standard peripheral whole blood sample (10 mL in two Lavender‑Top EDTA tubes) is required. Collection is performed by our trained phlebotomists via VIP mobile home service or at our facility. The sample must be refrigerated (not frozen) and shipped with a completed Whole Exome Sequencing Consent Form (Form 37).
UAE Regulatory & Data Privacy Adherence
All services at DNA Labs UAE operate in full compliance with UAE 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. Patient consent and clinical safety adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DHA Facility License Number: 1143.
Clinical & Logistical Metadata
| Test Name | Microphthalmia / Anophthalmia / Coloboma Spectrum (MAC) Genetic Sequencing Panel |
| Price (AED) | 3,200 |
| Turnaround Time | 45 Working Days |
| Sample Type / Matrix | Peripheral Whole Blood (10 mL in 2 Lavender‑Top EDTA tubes) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform with Sanger confirmation |
| ICD-10-CM Code | Q11.1 (Microphthalmos), Q11.0 (Anophthalmos), Q14.8 (Other congenital malformations of posterior segment) |
| LOINC Code | 93841-4 (Microphthalmia/anophthalmia/coloboma genetic analysis panel) |
| DHA Facility License & Address | License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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