Test Price
2,800 AED✅ Home Collection Available
SLC45A2 Gene – Oculocutaneous Albinism Type 4 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل تسلسل الجيل التالي لجين SLC45A2 للبرص الجلدي البصري من النوع الرابع في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
ملخص تنفيذي: يوفر هذا التحليل الجيني المتقدم باستخدام تقنية تسلسل الجيل التالي (NGS) تشخيصاً دقيقاً للطفرات في جين SLC45A2 المرتبطة بالبرص الجلدي البصري من النوع الرابع. يتم إجراء التحليل في مختبر معتمد دولياً بمعيار ISO 9001:2015 وتحت إشراف هيئة الصحة بدبي، مع حساسية تشخيصية تصل إلى 99.9%. يشمل التحليل جلسة استشارة وراثية شاملة ورسم شجرة العائلة لتحديد نمط الوراثة.
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via NGS (Next Generation Sequencing) with full gene coverage and variant interpretation per ACMG 2026 guidelines — processed exclusively through our ISO 9001:2015 accredited facility (Cert: INT/EGQ/2509DA/3139).
- ✓Premium Logistics: Paid Hospital-Grade Home Collection via ISO-Certified Cold-Chain transport (8 AM – 11 PM daily). VIP Mobile Phlebotomy with temperature-monitored DNA stabilization for Whole Blood, Extracted DNA, or FTA Card samples.
- ✓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.
Overview
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.
يُعد تحليل جين SLC45A2 باستخدام تقنية تسلسل الجيل التالي فحصاً جينياً شاملاً يغطي كامل المنطقة المُشفّرة للجين، مما يتيح الكشف عن الطفرات النقطية والحذوف والإدخالات الصغيرة وتغيرات عدد النسخ بدقة عالية، وهو مُصمم خصيصاً لتلبية احتياجات السكان في دولة الإمارات العربية المتحدة.
| 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 Protocol
"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."
— Dr. Prabhakar Reddy, DHA License No. 61713011
⚠ MEDICATION WARNING:
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 UAE CDS Law 2026)
- 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 2026 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.
٣. كم تستغرق نتيجة التحليل وهل يشمل السعر الاستشارة الوراثية؟
تستغرق نتيجة تحليل تسلسل الجيل التالي لجين SLC45A2 من ثلاثة إلى أربعة أسابيع، ويشمل السعر الإجمالي البالغ 2800 درهم إماراتي جلسة الاستشارة الوراثية قبل الفحص وتقريراً طبياً شاملاً وتوجيهاً سريرياً هاتفياً بعد صدور النتيجة. يتم إعداد التقرير وفق معايير الكلية الأمريكية لعلم الوراثة الطبية والجينوم (ACMG 2026) ويتضمن تفسيراً سريرياً كاملاً للطفرات المُكتشفة وتوصيات للفحص المتتالي لأفراد الأسرة. يمكن للمرضى التواصل عبر تطبيق واتساب على الرقم +971 54 548 8731 للاستفسار عن حالة التقرير أو حجز جلسة توجيه سريري هاتفية مع مستشار وراثي مُعتمد من هيئة الصحة بدبي.
UAE Regulatory Compliance & Accreditation
- Federal Decree-Law No. 41 of 2024 (Art. 87): Full compliance with genetic testing regulations, mandatory genetic counselling requirements, and prohibition of genetic discrimination in the UAE.
- CDS Law 2026 (Minors): Mandatory guardian consent for all genetic testing performed on individuals under 18 years of age. Parental or legal guardian accompaniment required during sample collection.
- UAE PDPL (Personal Data Privacy Law): All genetic data is encrypted, stored on UAE-based secure servers, and processed in strict compliance with Federal PDPL provisions. Patient data is never shared with third parties without explicit written consent.
- ISO 9001:2015 Certification: Cert: INT/EGQ/2509DA/3139 — Laboratory facility licensed under DHA Facility License No. 9834453.
- DHA-MOHAP Standard Nomenclature: All reporting adheres to DHA and MOHAP-approved clinical nomenclature with full traceability to LOINC and ICD-10-CM 2026 coding standards.
- 2026 ICD-10-CM Codes: E70.329 (Oculocutaneous Albinism Type 4), E70.3 (Albinism), E70.30 (Oculocutaneous Albinism, Unspecified) — including genetic susceptibility marker Z15.89.
- LOINC Code: 81226-7 — Genetic Analysis Summary Panel (NGS-based germline variant assessment).
Book Your Home Collection Today
Home Collection Available 8 AM – 11 PM | 7 Days a Week | Cold-Chain ISO Certified
WhatsApp: +971 54 548 8731Facility License: 9834453 | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians