Test Price
2,800 AED✅ Home Collection Available
ABCA12 Gene Sequencing (Harlequin Ichthyosis) in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ABCA12 لمرض السماك المهرج في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
ملخص تنفيذي: فحص جيني فائق الدقة لتحديد الطفرات الممرضة في جين ABCA12 المسبب لمرض السماك المهرج (متلازمة الجنين المهرج)، معتمد من هيئة الصحة بدبي وبموافقة ISO 9001:2015.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Next-Generation Sequencing (NGS) with confirmatory Sanger analysis.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain. VIP Mobile Phlebotomy available daily 8 AM – 11 PM, preserving sample integrity from your doorstep.
- Clinical Guidance: Includes a mandatory pre-test genetic counselling session and telephonic post-test interpretation by a DHA-licensed counsellor.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
Overview
ABCA12 gene sequencing identifies pathogenic variants that cause Harlequin ichthyosis, a severe autosomal recessive congenital skin disorder characterized by massive hyperkeratosis and life-threatening skin barrier dysfunction. Our NGS-based test examines the entire coding region of the ABCA12 gene with >99.9% analytical sensitivity and specificity, enabling definitive prenatal or postnatal diagnosis, carrier detection, and informed reproductive planning. يوفر هذا الفحص تحليلًا كاملاً لجين ABCA12 باستخدام تقنية التسلسل الجيني المتطور، مما يسمح بالتشخيص الدقيق لمرض السماك المهرج.
| Feature | Our ABCA12 NGS Test | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | NGS (next-generation sequencing) of full gene plus exon-intron boundaries | Sanger sequencing of selected exons |
| Detection Rate | >99% for known and novel pathogenic variants | Limited to pre-defined hotspots; may miss large deletions/duplications |
| Turnaround Time | 3–4 weeks | 4–6 weeks (typically) |
| Regulatory Compliance | Full UAE DHA/MOHAP certification, ISO 9001:2015 | May not meet local genetic testing laws |
Physician Insight & Safety Protocol
“As a clinician, I understand the profound anxiety that a suspected Harlequin ichthyosis diagnosis brings to families. This genetic test provides definitive molecular clarity, but it must always be interpreted alongside clinical findings and within the framework of expert genetic counselling. I personally oversee our laboratory’s quality assurance to ensure each result is actionable and compassionate.” – Dr. Prabhakar Reddy, DHA License 61713011
⚠ Medication Alert: Do not discontinue any prescribed medication, including retinoids or emollients, without consulting your treating physician. Genetic testing does not replace ongoing clinical care.
Safety Exclusion Criteria & ER Red Flags
- Exclusion: History of bone marrow or stem cell transplant within the last 12 months – donor DNA may interfere with test accuracy.
- Exclusion: Recent blood transfusion (less than 4 weeks) – please inform the laboratory prior to collection.
- ER Red Flag: If the patient exhibits signs of severe dehydration, skin barrier failure leading to systemic infection, respiratory distress, or electrolyte imbalance, seek immediate emergency medical care.
- Minors: All testing on patients under 18 requires informed written consent from the legal guardian, in strict compliance with UAE CDS Law 2026.
Patient FAQ & Clinical Guidance
1. What is the purpose of the ABCA12 gene test and what does it detect?
The ABCA12 gene test definitively diagnoses Harlequin ichthyosis by identifying disease-causing mutations in the entire coding region. يكشف تحليل جين ABCA12 عن الطفرات الممرضة المسببة لمرض السماك المهرج، ويحدد حالة الحامل للطفرة لأغراض تنظيم الأسرة. It also clarifies carrier status for parents and siblings, enabling precise genetic counselling and prenatal options.
2. How is the sample collected and when can I expect results?
A simple blood draw is performed at your home by a DHA-licensed phlebotomist, with results reported in 3 to 4 weeks. يتم سحب عينة الدم منزلياً عبر ممرض معتمد من هيئة الصحة، وتصدر النتائج خلال 3 إلى 4 أسابيع. The sample is transported in a cold-chain container directly to our ISO-certified laboratory, ensuring no loss of genetic material.
3. Is genetic counseling mandatory before this test?
Yes, UAE law under Federal Decree-Law No. 41 of 2024 requires a pre- genetic counselling session and documented informed consent. بموجب القانون الاتحادي رقم 41 لعام 2024، يتطلب الفحص جلسة استشارة وراثية مسبقة وموافقة مستنيرة، خاصة للقاصرين. This session includes drawing a detailed pedigree chart of affected family members and explaining possible outcomes, which you can schedule via our WhatsApp service.
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