Test Price
2,800 AED✅ Home Collection Available
SLC45A2 Gene – Oculocutaneous Albinism Type 4 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary: This advanced genetic test using Next Generation Sequencing provides precise diagnosis of mutations in the SLC45A2 gene associated with Oculocutaneous Albinism Type 4. Performed at an internationally accredited ISO 9001:2015 laboratory under DHA supervision, it delivers 99.9% diagnostic sensitivity. The test includes a comprehensive genetic counseling session and family pedigree analysis to determine inheritance pattern.
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via NGS (Next Generation Sequencing) with full gene coverage and variant interpretation per ACMG guidelines — processed exclusively through our ISO 9001:2015 accredited facility (Cert: INT/EGQ/2509DA/3139).
- ✓Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM). Specimens accepted: Whole Blood (EDTA), FTA Card, or Extracted DNA.
- ✓Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation, including genetic counseling integration and family cascade screening recommendations.
- ✓Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731 — we coordinate directly with your UAE insurer prior to sample collection.
Test Overview & Methodology
The SLC45A2 Gene Genetic Test is a comprehensive molecular diagnostic assay designed to detect pathogenic variants in the SLC45A2 gene associated with Oculocutaneous Albinism Type 4 (OCA4), a rare autosomal recessive disorder characterized by reduced melanin biosynthesis in the skin, hair, and eyes. This test utilizes Next Generation Sequencing (NGS) technology to achieve full coding-region coverage with high-depth read analysis, enabling the identification of point mutations, small insertions/deletions, and copy number variations with 99.9% diagnostic sensitivity — clinically validated and DHA-compliant for the UAE population.
| Parameter | Our Test – NGS (This Panel) | Closest Alternative – Sanger Sequencing |
|---|---|---|
| Precision | >99.9% — Full gene coverage with CNV detection | ~95% — Limited to targeted exons only |
| Methodology | NGS (Next Generation Sequencing) — Parallelized high-depth reads | Sanger Sequencing — Single-amplicon capillary electrophoresis |
| Turnaround Time | 3 to 4 Weeks — Comprehensive bioinformatics pipeline | 4 to 8 Weeks — Sequential exon-by-exon analysis |
| Variant Detection | SNVs, Indels, CNVs, deep intronic splice variants | SNVs and small Indels only |
| Clinical Utility | Diagnosis, carrier screening, family cascade testing | Confirmation of known familial variant only |
Physician Insight & Safety Protocols
"As a clinician with over two decades of diagnostic experience, I want to emphasise that genetic test results — particularly for Oculocutaneous Albinism Type 4 — must always be interpreted within the full context of your clinical presentation, family history, and dermatological findings. A positive result confirms the molecular diagnosis and enables precise genetic counselling and family planning, while a negative result does not exclude the condition if clinical suspicion remains high; further biochemical or alternative gene testing may be warranted."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License No. 9294403
Medication Advisory
Do not discontinue any prescribed medication, topical treatment, or photoprotective regimen without consulting your treating physician. Genetic test results do not replace ongoing dermatological management, ophthalmological surveillance, or sun protection protocols. Always discuss result implications with your specialist before making any therapeutic changes.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed Without Clinical Clearance):
- Active febrile illness or acute infection at time of sample collection
- Recent blood transfusion (within 4 weeks) — may cause donor DNA interference
- Current use of anticoagulant therapy without physician clearance for venipuncture
- Inability to provide informed consent (guardian required for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability)
- Inadequate sample volume or compromised DNA integrity (FTA Card must be fully dried)
ER Red Flags — Seek Immediate Medical Attention:
- Sudden onset of severe photophobia with eye pain
- Rapidly changing or ulcerating skin lesions
- Unexplained neurological symptoms (nystagmus worsening acutely)
- Signs of secondary skin infection in hypopigmented areas
- Acute visual acuity deterioration requiring urgent ophthalmology review
Patient FAQ & Clinical Guidance
1. What is the SLC45A2 Genetic Test and why is it important for diagnosing Oculocutaneous Albinism Type 4?
The SLC45A2 Genetic Test is a comprehensive molecular diagnostic assay that sequences the entire coding region of the SLC45A2 gene to identify pathogenic variants responsible for Oculocutaneous Albinism Type 4, a condition affecting melanin production. This test is clinically essential for confirming the molecular diagnosis, distinguishing OCA4 from other albinism subtypes (OCA1, OCA2, OCA3), guiding dermatological and ophthalmological surveillance, and enabling accurate genetic counselling for family planning. In the UAE context, where consanguinity rates elevate autosomal recessive disease prevalence, early molecular confirmation via NGS is the gold standard recommended by DHA guidelines.
2. How is the sample collected and what preparation is required before the test?
Sample collection is performed via our ISO-certified hospital-grade home collection service where a qualified phlebotomist draws a venous blood sample (3-5 mL in EDTA tube), or alternatively, a single drop of blood on an FTA Card or previously extracted DNA can be submitted. Prior to collection, patients must complete a mandatory pre-test genetic counselling session to document clinical history and construct a detailed pedigree chart of family members affected by or suspected of having SLC45A2-related albinism. No fasting is required. Patients on anticoagulants must inform the collection team. All samples are transported under cold-chain conditions (2–8°C) with continuous temperature monitoring per ISO 9001:2015 logistics protocols.
3. Can this test be used for carrier screening in unaffected individuals?
Yes, the SLC45A2 genetic test detects carrier status for Oculocutaneous Albinism Type 4 with high accuracy. For individuals without symptoms but with a family history of albinism, carrier screening can identify heterozygous mutations that confer no phenotype but imply a 25% recurrence risk per pregnancy if both parents are carriers. The test report includes carrier status interpretation, recurrence risk calculations, and recommendations for partner testing. Post-test genetic counseling is mandatory to discuss reproductive options, including preimplantation genetic diagnosis (PGD) if applicable. All results are interpreted per ACMG variant classification guidelines and are kept strictly confidential under UAE PDPL regulations.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is encrypted, stored on UAE-based secure servers, and processed in strict compliance with PDPL provisions. Patient data is never shared with third parties without explicit written consent.
- Federal Law No. 2 of 2019 Concerning the Use of ICT in Health Fields: Full compliance with health information security and electronic medical record standards ensuring safe data transmission and storage.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Mandates informed consent for all genetic testing, especially for minors, and ensures patient rights protection during clinical and sample collection procedures.
- ISO 9001:2015 Certification: Cert: INT/EGQ/2509DA/3139 — Laboratory facility licensed under DHA Facility License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
- Corporate Lab Branding: DNA Labs UAE — All testing and reporting is conducted under the oversight of DNA Labs UAE, a DHA-licensed molecular diagnostics facility.
- ICD-10-CM Coding: E70.329 (Oculocutaneous Albinism Type 4), E70.3 (Albinism), E70.30 (Unspecified Oculocutaneous Albinism), Z15.89 (Genetic susceptibility marker).
- LOINC Code: 81226-7 — Genetic Analysis Summary Panel (NGS-based germline variant assessment).
Clinical & Logistical Metadata
| Test Name | SLC45A2 Gene – Oculocutaneous Albinism Type 4 Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), FTA Card, or Extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) – Full coding region with CNV analysis |
| ICD-10-CM Code | E70.329, E70.3, E70.30, Z15.89 |
| LOINC Code | 81226-7 |
| DHA Facility License & Laboratory Address | DHA License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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