Test Price
2,800 AED✅ Home Collection Available
OAT Gene Gyrate Atrophy of Choroid and Retina Genetic Test in UAE | AED 2800 | DNA Labs UAE
Executive Summary & Core Metrics
Clinical Synopsis & Diagnostic Precision
The OAT Gene NGS Test provides definitive molecular diagnosis of gyrate atrophy of the choroid and retina, an autosomal recessive disorder caused by pathogenic variants in the ornithine aminotransferase gene. This highly sensitive assay achieves >99.9% diagnostic sensitivity for SNVs and indels, enabling precise metabolic and ophthalmologic management.
- Diagnostic Yield: 99.9% Sensitivity via ISO Accredited NGS Processing.
- Specimen Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Consultation and Genetic Counselling included.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The assay employs Next-Generation Sequencing (NGS) targeting the entire coding region and splice sites of the OAT gene, complemented by Sanger confirmation of detected variants and CNV analysis. This comprehensive molecular strategy identifies pathogenic single nucleotide variants, small insertions/deletions, and large copy number changes that disrupt ornithine aminotransferase function, leading to hyperornithinemia and progressive chorioretinal degeneration.
| Feature | DNA Labs UAE – NGS OAT Gene | Closest Alternative (Biochemical) |
|---|---|---|
| Methodology | NGS + Sanger Confirmation + CNV Analysis | Plasma Ornithine Assay + Ophthalmoscopy |
| Diagnostic Sensitivity | >99.9% for pathogenic SNVs/indels | ~85% (phenotypic); no genetic confirmation |
| Turnaround Time | 3–4 Weeks | 72 hours (biochemical) |
| Clinical Utility | Definitive diagnosis, carrier detection, family planning, clinical trial eligibility | Supports clinical diagnosis; cannot identify carriers |
Physician Insight & Safety Protocols
"The OAT gene NGS test represents a significant advancement in the diagnostic journey for patients with inherited retinal dystrophies. A definitive molecular diagnosis not only clarifies the prognosis but also unlocks reproductive options and potential eligibility for emerging gene-specific therapies. However, it must be interpreted strictly within the context of a full ophthalmic examination and metabolic workup."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Clinical Advisory
⚠️ Important Pre-Test Consideration
Do not discontinue or modify any prescribed medications, including low-protein diets or pyridoxine (Vitamin B6) supplementation, without prior consultation with your treating ophthalmologist or metabolic physician. Genetic test results are integral to, but not a replacement for, ongoing clinical management.
Exclusion Criteria & Clinical Red Flags
- Exclusion: Test not indicated for asymptomatic individuals without a documented family history or clinical signs of gyrate atrophy.
- Red Flag: Sudden loss of vision, acute eye pain, or symptoms suggestive of acute glaucoma require immediate emergency ophthalmic evaluation, not elective genetic testing.
- Red Flag: New-onset neurological symptoms (e.g., seizures, developmental regression) should prompt urgent metabolic and neurological workup.
Patient FAQ & Clinical Guidance
1. What does the OAT gene test detect, and how does it confirm gyrate atrophy of the choroid and retina?
The OAT gene test detects pathogenic variants in the ornithine aminotransferase gene, confirming gyrate atrophy of the choroid and retina with >99% diagnostic accuracy. This molecular analysis identifies single nucleotide changes, small deletions/insertions, and copy number variations that disrupt enzyme function, leading to retinal degeneration. A positive result, combined with clinical findings and elevated plasma ornithine, establishes a definitive diagnosis and informs prognosis and family screening.
2. How should I prepare for the test, and what does the pre-test genetic counselling involve?
Pre-test preparation includes providing a detailed clinical history and attending a genetic counselling session to construct a pedigree, ensuring informed consent and accurate risk assessment for family members. The counsellor will explain autosomal recessive inheritance, possible results (pathogenic, variant of uncertain significance, benign), and implications for siblings and future children. No fasting or medication changes are required; sample collection can be performed on whole blood, extracted DNA, or a single drop of blood on an FTA card via our VIP Mobile Phlebotomy service.
3. Can this test determine if I am a carrier for gyrate atrophy, and how does it impact family planning?
The OAT gene NGS test can reliably identify heterozygous carriers who show no symptoms but can pass the condition to offspring, making it an essential tool for reproductive risk assessment and family planning in the UAE. When both partners are carriers, each pregnancy has a 25% chance of an affected child; post-test genetic counselling can discuss options such as preimplantation genetic diagnosis (PGD) or prenatal testing. Results are reported with full confidentiality under UAE Federal Decree-Law No. 45 of 2021 (PDPL).
UAE Regulatory & Data Privacy Adherence
This clinical service operates under the strict regulatory framework of the Dubai Health Authority (DHA) and adheres to federal data protection and health information laws:
- Data Privacy: Compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Data Governance: Compliant with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety & Consent: All procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety and informed consent.
- Facility Oversight: DHA Facility License No. 1143, Laboratory Services strictly monitored by Dubai Healthcare City Authority – Regulatory (DHCC-R).
Clinical & Logistical Metadata
| Test Name | OAT Gene Sequencing (Gyrate Atrophy of Choroid and Retina) |
| Price (AED) | 2,800 |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation & CNV Analysis |
| ICD-10-CM Code | H31.22 |
| LOINC Code | 101281-1 |
| DHA Facility License & Address | DNA Labs UAE | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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