Test Price
2,800 AED✅ Home Collection Available
COL4A1 Gene Porencephaly, Familial Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين COL4A1 للكشف عن اعتلال الدماغ المسامي العائلي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- ✓ 99.9% Diagnostic Sensitivity via ISO-accredited NGS processing, providing definitive familial COL4A1 mutation detection.
- ✓ Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by board-certified genetic counselors.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي
يوفر هذا الاختبار دقة تشخيصية تصل إلى 99.9% مع خدمات جمع عينات منزلية معتمدة من الآيزو، وتوجيهات سريرية مهنية عبر الهاتف بعد النتائج، وتحقق مباشر للتأمين عبر واتساب.
Test Overview
The COL4A1 Gene Porencephaly, Familial Genetic Test comprehensively analyzes the entire coding region and splice sites of the COL4A1 gene using Next Generation Sequencing (NGS) to identify pathogenic variants linked to familial porencephaly, cerebral small vessel disease, and brain malformations. يُستخدم اختبار تسلسل الجيل التالي (NGS) لتحليل جين COL4A1 بشكل كامل للكشف عن الطفرات المسببة لاعتلال الدماغ المسامي العائلي.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% sensitivity for point mutations, small indels, and exon-level copy number variants | High for single targeted region; limited for whole gene CNV detection |
| Method | Next Generation Sequencing (NGS) with clinically validated bioinformatics pipeline | Sanger sequencing – one amplicon at a time |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (if multiple amplicons required) |
Target Clinical Specialists
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA: 61713011) advises: “This test identifies pathogenic variants in COL4A1 that predispose to cerebral microangiopathy and porencephaly; results must be interpreted by a qualified clinical geneticist and integrated with neuroimaging and family history. A negative result does not exclude other genetic or acquired causes, and regular follow-up with a pediatric neurologist remains essential. Please use this test to define risk, not to replace clinical judgment.”
⚠ Medication Warning: Do not discontinue prescribed medication without consulting your doctor. Genetic test results are not an indication to alter any current therapy.
Safety Exclusion Criteria & Red Flags
- Exclusion: For minors, legal guardian consent is mandatory per UAE CDS Law 2026; sample collection may be delayed if the patient has active bleeding disorders or infection at the venipuncture site.
- ER Red Flag 1: Sudden severe headache, visual disturbances, or focal weakness in an infant or child – may indicate an acute intracranial hemorrhage related to COL4A1 vasculopathy; seek emergency care immediately.
- ER Red Flag 2: New-onset seizures or loss of consciousness in a known carrier – requires urgent neurological evaluation and neuroimaging.
Patient FAQ & Clinical Guidance
1. What is the COL4A1 gene test and who should get tested?
Quick Answer: The detects mutations in the COL4A1 gene that cause familial porencephaly and cerebral small vessel disease; it is indicated for individuals with personal or family history of early-onset stroke, brain cysts, or developmental delay.
يكشف هذا الاختبار عن الطفرات في جين COL4A1 المسببة للمرض المسامي العائلي، ويوصى به لأولئك الذين لديهم تاريخ شخصي أو عائلي من السكتة الدماغية المبكرة أو تكيسات الدماغ.
2. How is the sample collected and what is the TAT?
Quick Answer: Sample collection involves a simple blood draw, one drop of blood on an FTA card, or previously extracted DNA; results are delivered in 3–4 weeks.
يتم جمع العينة بسحب دم صغير أو قطرة دم على بطاقة FTA، وتظهر النتائج خلال 3 إلى 4 أسابيع.
3. What do the results mean and what follow-up is required?
Quick Answer: Positive results confirm a genetic predisposition requiring lifelong neurological surveillance; negative results reduce but do not eliminate risk, so clinical monitoring continues.
النتائج الإيجابية تؤكد الاستعداد الوراثي للمرض وتستلزم مراقبة عصبية مدى الحياة، أما النتائج السلبية فلا تستبعد المرض كلياً.
This service strictly complies with Federal Decree-Law No. 41 of 2024 (Article 87), UAE CDS Law 2026 (Minors' genetic testing consent), and UAE PDPL for data privacy.
Laboratory Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Facility License: 9834453
Support: +971545488731 (WhatsApp & Voice)
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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.
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All reports reviewed by DHA-Certified physicians