Test Price
2,800 AED✅ Home Collection Available
TSEN54 Gene Pontocerebellar Hypoplasia Type 5 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين TSEN54 لنوع 5 من نقص تنسج الدماغ الجسري المخيخي بتسلسل الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary (ملخص تنفيذي)
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited NGS processing.
- Premium Logistics: Hospital-grade home collection via ISO-certified cold-chain logistics & VIP mobile phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Complimentary post-test telephonic clinical interpretation by DHA-licensed specialists.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
الفحص يستخدم تقنية تسلسل الجيل التالي بدقة تشخيصية 99.9% عبر مختبر حاصل على شهادة الأيزو. تشمل الخدمة السحب المنزلي على مستوى المستشفى والنقل المبرد المعتمد، مع استشارة هاتفية لتفسير النتائج.
Clinical Specialists Interpreting this Test
Clinical evaluation, genetic counseling referral, and correlation of TSEN54 mutation with pontocerebellar hypoplasia type 5 phenotype.
Advanced genetic analysis, variant classification, and translational research into neurogenetic disorders.
Performing NGS library preparation, sequencing, quality control, and data generation as per ISO 9001:2015.
Overview
The TSEN54 gene test detects pathogenic variants linked to pontocerebellar hypoplasia type 5, a rare neurogenetic disorder. Our NGS methodology screens the entire coding region with high depth coverage, enabling precise diagnosis and family planning. يكشف اختبار جين TSEN54 عن الطفرات المسببة لنوع 5 من نقص تنسج الدماغ الجسري المخيخي، وهو اضطراب نادر يؤثر على النمو العصبي.
| Feature | Our Test (NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Methodology | Next-Generation Sequencing (full gene) | Sanger sequencing (hotspot analysis) |
| Diagnostic Sensitivity | 99.9% for coding variants | ~95% for targeted regions only |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| Variant Coverage | All exons ±10 bp splice sites | Limited to known mutations |
| Price (AED) | 2800 | ~2000 |
Clinical Expert Review & Safety Measures
“As a neurologist, I understand the emotional weight of seeking a diagnosis for a child with developmental delays. While this NGS test is highly accurate, a positive result must be correlated with clinical findings and genetic counseling. Please never stop prescribed medications without consulting your physician.”
— Dr. Prabhakar Reddy, DHA License: 61713011
⚠️ Medication Warning: Do not discontinue any prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent blood transfusion (within 2 weeks) or ongoing anticoagulant therapy without physician clearance may compromise sample integrity for DNA extraction.
- Emergency Red Flags: If you or your child experiences sudden loss of consciousness, severe seizures, or acute neurological decline, seek immediate emergency care. Do not wait for genetic test results.
Frequently Asked Questions & Clinical Guidance
Q1: What is the TSEN54 gene test and why is it done?
The TSEN54 test detects mutations in the TSEN54 gene causing pontocerebellar hypoplasia type 5 using next-generation sequencing. This test is primarily ordered for infants or children with microcephaly, severe developmental delay, and characteristic brain MRI findings to confirm a genetic diagnosis and guide management.
يكشف اختبار TSEN54 عن الطفرات في الجين المسبب لنوع 5 من نقص تنسج الدماغ الجسري المخيخي باستخدام تسلسل الجيل التالي. يُجرى أساسًا للأطفال المصابين بصغر الرأس والتأخر النمائي الشديد لتأكيد التشخيص الجيني.
Q2: How is the sample collected and is home collection available?
Sample collection requires a simple blood draw or a dried blood spot on an FTA card, both available through our VIP home phlebotomy service. Our certified phlebotomists visit you between 8 AM and 11 PM daily, ensuring cold-chain transport to our ISO lab for immediate processing.
يتم جمع العينة بسحب دم بسيط أو بقعة دم جافة على بطاقة FTA، ويمكن إجراؤها في المنزل عبر خدمة السحب المنزلي المتميزة لدينا، مع نقل مبرد للمختبر.
Q3: When will I get my results and how are they explained?
Results are available in 3 to 4 weeks and include a telephonic post- clinical guidance session with a specialist. The report details pathogenic, likely pathogenic, or variants of uncertain significance, interpreted per ACMG guidelines, to support your neurologist’s management plan.
تظهر النتائج في غضون 3 إلى 4 أسابيع وتتضمن جلسة هاتفية مع أخصائي لتفسيرها، مع تصنيف للطفرات حسب إرشادات ACMG.
🔒 UAE Regulatory Compliance
This service strictly adheres to Federal Decree-Law No. 41 of 2024 on Medical Liability (Art. 87), the upcoming UAE Child Data Safety Law (CDS 2026) for minors, and the UAE Personal Data Protection Law (PDPL). All genetic data is encrypted and stored on HIPAA/GDPR-compliant servers with DHA oversight.
Facility License: 9834453 | ISO 9001:2015 Cert: INT/EGQ/2509DA/3139
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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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians