Test Price
2,800 AED✅ Home Collection Available
TSEN54 Gene Pontocerebellar Hypoplasia Type 4 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين TSEN54 للكشف عن نقص التنسج الجسري المخيخي من النوع الرابع في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary (ملخص تنفيذي)
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance with a DHA-Licensed Genetic Counsellor for Result Interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731. Pre-authorization support for major UAE insurers.
- تحليل جين TSEN54: دقة تشخيصية بنسبة 99.9% عبر معالجة بمعايير ISO، مع استشارة وراثية هاتفية بعد الفحص وسحب منزلي معتمد.
Test Overview
The TSEN54 NGS test sequences the entire coding region of the TSEN54 gene to detect pathogenic variants associated with Pontocerebellar Hypoplasia Type 4 (PCH4) – a severe autosomal recessive neurodevelopmental disorder marked by microcephaly, profound motor and cognitive impairment, and brainstem/cerebellar malformations. This next‑generation sequencing test offers near‑exhaustive variant detection, enabling early diagnosis, carrier screening, and informed reproductive planning in accordance with UAE genetic counselling guidelines.
| Parameter | Our Test | Alternative (Single‑Gene PCR) |
|---|---|---|
| Precision | Full gene sequencing (coding exons ±10 bp intronic boundaries), ≥100× depth | Targeted mutation panel, limited to known founder variants |
| Methodology | Illumina Next‑Generation Sequencing + Sanger confirmation | Allele‑specific PCR or Sanger sequencing of selected exons |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
Physician Insight & Safety Protocol
Dr. Prabhakar Reddy, DHA License 61713011, Consultant Neurologist: “This test is a powerful diagnostic instrument, yet it must always be weighed with your child’s full clinical picture and brain imaging. A positive result can confirm the diagnosis and guide early interventions, while a negative result does not exclude other neurological conditions. Please never stop any prescribed treatment without your doctor’s supervision.”
MEDICATION WARNING: Do not discontinue any anticonvulsant, muscle relaxant, or other prescribed medication prior to or after genetic testing without explicit instruction from your treating physician.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Severe haemodynamic instability, inability to safely provide a venous blood sample, or a recent (<2 weeks) whole blood transfusion that could introduce donor DNA.
- ER Red Flags: Sudden onset of apnoeic episodes, status epilepticus, acute worsening of feeding difficulties, or any sign of brainstem herniation. Seek immediate emergency medical attention if these occur.
Patient FAQ & Clinical Guidance
1. What is the TSEN54 gene test used for?
Snippet Answer: The TSEN54 test detects mutations causing Pontocerebellar Hypoplasia Type 4, a severe genetic brain malformation syndrome, enabling definitive diagnosis and family risk assessment.
This next‑generation sequencing analysis reads the entire TSEN54 gene, identifying both known and novel pathogenic variants. In the UAE, it is typically ordered by paediatric neurologists or clinical geneticists when clinical features (microcephaly, hypertonia, chorea) and MRI findings suggest PCH4. Results guide prognosis, therapy, and reproductive options.
يُستخدم اختبار جين TSEN54 للكشف عن الطفرات المسببة لنقص التنسج الجسري المخيخي من النوع الرابع، مما يتيح التشخيص الدقيق وتقدير المخاطر الوراثية للعائلة.
2. How is the sample collected for this genetic test?
Snippet Answer: A standard blood draw, one drop of blood on an FTA card, or already extracted DNA can be used, collected via our VIP home phlebotomy service.
Our DHA‑approved mobile team will visit your home, clinic, or hospital between 8 AM and 11 PM using sterile, cold‑chain transport. For infants, a single drop of blood on an FTA card is often sufficient, minimizing discomfort. You must be accompanied by a consenting parent or legal guardian (mandatory under UAE CDS Law 2026 for minors). Pre‑ genetic counselling is provided to explain the procedure and obtain a family pedigree.
يمكن جمع العينة بسحب دم قياسي أو نقطة دم على بطاقة FTA أو حمض نووي مستخلص مسبقاً، عبر خدمة السحب المنزلي المعتمدة من هيئة الصحة بدبي.
3. How long does it take to receive results?
Snippet Answer: The turnaround time is 3 to 4 weeks from sample receipt, including sequencing, bioinformatic analysis, and double‑checking by a clinical molecular geneticist.
While the laboratory processing itself takes about 10–14 days, the additional time accounts for thorough variant interpretation using the latest clinical databases, Sanger validation, and multidisciplinary sign‑off. Results are delivered via a secure encrypted PDF with a pre‑scheduled tele‑consultation. Urgent requests for symptomatic patients can be expedited by calling +971545488731.
تستغرق النتائج من 3 إلى 4 أسابيع من وصول العينة، وتشمل تحليل التسلسل والتحقق المخبري المزدوج، مع إمكانية تسريع الحالات الطارئة عبر الاتصال هاتفياً.
UAE Regulatory & Accreditation Notice:
This laboratory service complies with Federal Decree‑Law No. 41 of 2024 (Art. 87) on medical testing, the UAE Child Protection (CDS) Law 2026 for minor genetic testing, and UAE Personal Data Protection Law (PDPL). Facility License: 9834453. ISO 9001:2015 Certification No: INT/EGQ/2509DA/3139. Home collection services are offered as GovernmentService under DHA permit number available on request.
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