Test Price
2,800 AEDโ Home Collection Available
LRMDA Gene (Oculocutaneous Albinism Type 7) Genetic Test in UAE | 2,800 AED | DHA-Approved Genomics
Definitive molecular diagnosis of Oculocutaneous Albinism Type 7 (OCA7) via Next Generation Sequencing (NGS) of the entire coding region of the LRMDA gene. Precision genetic analysis for dermatological and ophthalmological care pathways, delivered with ISO-certified cold-chain home phlebotomy across Dubai, Abu Dhabi, Sharjah, and all Northern Emirates.
Executive Summary & Core Metrics
Diagnostic Accuracy Guarantee:
99.9% analytical sensitivity and specificity via Illumina NovaSeq 6000 platform, validated against reference standards. Detects single nucleotide variants (SNVs), small insertions/deletions (indels), and copy number variations (CNVs) across all LRMDA exons.
Premium Logistics & Collection:
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Hospital-grade service using ISO-certified cold-chain transport. Mobile unit available for pediatric, elderly, or immunocompromised patients. Sample stability guaranteed at 2-8ยฐC for whole blood, ambient temperature for FTA cards.
Post-Test Clinical Guidance:
Complimentary telephonic interpretation session with a DHA-registered genetic counsellor. Detailed report includes variant classification per ACMG/AMP guidelines, zygosity status, and correlation with ocular and dermatological phenotypes.
Insurance & Payment:
Direct billing verification to major UAE insurers (Daman, Thiqa, Neuron, AXA, etc.) via WhatsApp document submission. All transactions comply with UAE PDPL data privacy standards.
Price: 2,800 AED (All-inclusive: Collection, Sequencing, Report) | Turnaround Time: 18-21 Working Days | Sample: Blood, Extracted DNA, or Dried Blood Spot (FTA Card)
Test Overview & Methodology
This test delivers a definitive molecular diagnosis for Oculocutaneous Albinism Type 7 (OCA7), a rare autosomal recessive disorder characterized by hypopigmentation of skin, hair, and eyes. Our NGS approach sequences the complete LRMDA gene with deep coverage, ensuring no clinically relevant variant is missed. Unlike targeted genotyping panels that only screen for known founder mutations, our comprehensive analysis identifies both novel and established pathogenic variants, critical for the genetically diverse UAE population.
| Feature | Our LRMDA NGS Test | Closest Alternative (Targeted Genotyping) |
|---|---|---|
| Methodology | Full Gene NGS (Illumina NovaSeq 6000) with CNV analysis | Allele-specific PCR for 2-3 known variants |
| Variant Detection | Novel, rare, and structural variants across entire coding region | Only pre-specified mutations |
| Diagnostic Yield | > 98% for OCA7 | ~ 40-60% (misses atypical variants) |
| Reporting | ACMG/AMP classification, clinical correlation, genetic counselling | Presence/Absence only |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): "An OCA7 diagnosis is a clinical and molecular puzzle that requires careful correlation. I remind every patient that a genetic result โ whether positive, negative, or uncertain โ does not stand alone. It must be interpreted alongside your skin, hair, and comprehensive eye examination findings. For families, this result may illuminate a recessive inheritance pattern, offering clarity and informing future healthcare planning. Please consider this test a critical piece of your personal diagnostic map, not a final destination."
Critical Medication Advisory
Do not discontinue or modify any prescribed dermatological, ophthalmological, or immunosuppressive medication without direct consultation with your treating physician.
Genetic test results inform long-term management and surveillance strategies; they do not replace acute clinical interventions. Always maintain your current therapy until your specialist advises otherwise based on the full clinical picture.
Exclusion Criteria & Sample Rejection
- Blood samples received > 72 hours post-collection without cold-chain preservation.
- Extracted DNA with A260/A280 ratio outside 1.8-2.0 or concentration < 10 ng/ยตL.
- FTA cards with visible hemolysis, contamination, or blood spot area < 8mm diameter.
- Patient ineligible for consent under Federal Decree-Law No. 4 of 2016 on Medical Liability (minors require legal guardian authorization).
Emergency Red Flags (Seek Immediate Medical Attention)
- Acute onset of severe photophobia with eye pain or vision loss.
- Rapidly changing pigmented skin lesions with asymmetry, border irregularity, or color variegation.
- Unexplained bruising, petechiae, or bleeding tendency (suspect syndromic association).
- Severe sunburn with blistering covering > 10% body surface area in an infant.
Patient FAQ & Clinical Guidance
1. What does the LRMDA gene test actually detect, and how does it differ from a regular eye or skin examination?
Our LRMDA NGS test identifies pathogenic variants in the LRMDA gene causing Oculocutaneous Albinism Type 7 at the molecular level, providing a definitive genetic diagnosis that confirms clinical suspicion and distinguishes OCA7 from other albinism subtypes like OCA1 or OCA2. While a clinical examination can note hypopigmentation, foveal hypoplasia, or reduced visual acuity, it cannot pinpoint the specific gene responsible. This differentiation is critical because OCA7 is associated with a milder phenotype and distinct ocular findings, requiring tailored ophthalmological monitoring and skin cancer surveillance protocols rather than the intensive management needed for more severe OCA forms.
2. Does the 2,800 AED fee cover analysis of all LRMDA gene mutations, and are results accepted by the Dubai Health Authority?
Yes, the stated fee covers full sequencing of all coding regions of the LRMDA gene including point mutations, deletions, insertions, and copy number variations using NGS technology accredited by the Dubai Health Authority. The final report is issued according to ACMG/AMP standards and bears the stamp of our licensed facility (DHA Facility License: 1143), making it a legally valid document accepted by all healthcare providers and insurance institutions within the United Arab Emirates.
3. I am an adult with a mild form of albinism. Is genetic testing still necessary, and can I do it at home?
Even in mild or atypical presentations, molecular confirmation of an LRMDA variant is essential for genetic counselling, family planning, and establishing precise recurrence risks for your children and relatives. Yes, our DHA-registered mobile phlebotomy team visits your home or office between 8 AM and 11 PM to collect the required blood or buccal swab sample, ensuring complete patient convenience, privacy, and cold-chain integrity throughout the process. A pre-test genetic counselling session via telehealth will be scheduled to draw a detailed pedigree and ensure you understand the implications before we proceed.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE Federal Law.
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governs the lawful collection, processing, and storage of your genetic and personal information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulates the secure handling of electronic health records and telemedicine interactions.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ establishes your rights regarding informed consent and clinical safety throughout the diagnostic pathway.
All genetic data is encrypted, access-restricted, and retained only for the duration required by UAE health regulations. You retain the right to request data deletion at any time post-report delivery.
Clinical & Logistical Metadata
| Test Name | LRMDA Gene (Oculocutaneous Albinism Type 7) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 18-21 Working Days |
| Sample Type / Matrix | Blood, Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS) on Illumina NovaSeq 6000 |
| ICD-10-CM Code | E70.310 |
| LOINC Code | 90396-3 |
| DHA Facility License & Laboratory Address | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians