Test Price
2,800 AED✅ Home Collection Available
SKIV2L Gene Trichohepatoenteric Syndrome Type 2 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل الجين SKIV2L لمتلازمة الجلدي الكبدي المعوي من النوع الثاني عبر التسلسل عالي الإنتاجية (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – الخلاصة التنفيذية:
فحص جيني شامل لجين SKIV2L بتقنية التسلسل من الجيل التالي (NGS) لدقة تشخيصية تبلغ %99.9 مع خدمة سحب منزلي معتمدة من الآيزو وتوجيه طبي عن بعد بعد النتائج.
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: Paid Hospital-Grade Home Collection (8 AM – 11 PM) via ISO Certified Cold-Chain logistics, VIP Mobile Phlebotomy.
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Overview – نظرة عامة
The SKIV2L gene test analyzes the entire coding sequence of the SKIV2L gene using Next-Generation Sequencing (NGS) to confirm Trichohepatoenteric Syndrome Type 2 (THES2), a rare autosomal recessive disorder characterized by intractable diarrhea, facial dysmorphism, hair abnormalities, and liver disease. يقوم هذا الفحص الجيني بتحليل تسلسل الجين SKIV2L الكامل لتأكيد متلازمة الجلدي الكبدي المعوي من النوع الثاني بدقة عالية.
| Feature | Our Test (ISO 9001:2015) | Alternative Lab |
|---|---|---|
| Precision | Full gene NGS, 99.9% sensitivity | Sanger sequencing, lower coverage |
| Methodology | Next-Generation Sequencing (Illumina NovaSeq) | Targeted PCR + Sanger |
| Turnaround Time | 3–4 Weeks (Express option available) | 4–6 Weeks |
Physician Insight & Safety Protocol – إرشادات الطبيب وبروتوكول الأمان
“As a clinician with over two decades of experience in genetic and dermatologic disorders, I emphasize that this test provides definitive molecular confirmation for Trichohepatoenteric Syndrome Type 2, but clinical correlation with symptoms and family history remains essential. Please never discontinue any prescribed therapy without consulting your physician; genetic results are a piece of the diagnostic puzzle, not a standalone verdict.” – Dr. PRABHAKAR REDDY, DHA License: 61713011.
Medication Warning: Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- This test is not suitable for patients with a known alternative diagnosis explaining all symptoms.
- Active severe gastrointestinal bleeding or acute liver failure precluding sample collection; postpone testing.
- ER Red Flags: Sudden onset of bloody diarrhea, jaundice, or severe dehydration require immediate medical attention—do not wait for genetic results.
- Minors: Parental consent mandatory per CDS Law 2026; genetic counseling required pre-test.
Patient FAQ & Clinical Guidance – الأسئلة الشائعة والإرشادات السريرية
Q1: What is the SKIV2L gene test and what does it diagnose?
Quick Answer: SKIV2L gene NGS test detects mutations causing Trichohepatoenteric Syndrome Type 2 with 99.9% accuracy.
The SKIV2L test uses advanced Next-Generation Sequencing to read the complete coding region of the SKIV2L gene. This identifies pathogenic variants responsible for Trichohepatoenteric Syndrome Type 2 (THES2), a multisystem disorder characterized by early-onset intractable diarrhea, facial dysmorphism, hair shaft abnormalities, and liver disease. The test helps in confirming a clinical diagnosis, carrier screening, and guiding management. يقوم الفحص بقراءة الجين SKIV2L بالكامل لاكتشاف الطفرات المسببة للمتلازمة.
Q2: How do I prepare for this test, and which sample type is needed?
Quick Answer: Provide a blood sample, extracted DNA, or a drop of blood on an FTA card after genetic counseling.
A genetic counseling session is mandatory to draw a pedigree chart of family members affected with THES2. We accept whole blood (3–5 mL in EDTA tube), extracted DNA, or a dried blood spot on an FTA card for infants or remote collection. Fasting is not required. Our home collection team will guide you through the process. جلسة استشارة وراثية مطلوبة قبل الفحص لرسم شجرة العائلة واختيار نوع العينة المناسب.
Q3: What are the turnaround time and steps to receive my results?
Quick Answer: Results are delivered in 3–4 weeks with telephonic post- clinical guidance included.
After sample collection, you will receive a secure digital report within 3–4 weeks. Our DHA-licensed genetic counselors will call you to interpret the findings, explain implications for you and your family, and recommend next steps. Direct billing to insurance is verified via WhatsApp. تسليم النتائج خلال ٣-٤ أسابيع مع استشارة هاتفية بعد الفحص لتفسير النتائج.
Compliance & Accreditation: This laboratory operates under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and adheres to UAE Federal Decree-Law No. 41 of 2024 (Article 87), the Child Data Safety Law 2026 (minors protection), and the UAE PDPL for personal data privacy. All genetic testing is performed by DHA/MOHAP-licensed professionals.
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التحقق من التغطية التأمينية
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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.
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