Test Price
2,800 AED✅ Home Collection Available
TSEN54 Gene Pontocerebellar Hypoplasia Type 5 Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited NGS processing.
- Premium Logistics: Hospital-grade home collection via ISO-certified cold-chain logistics and VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Complimentary post-test telephonic clinical interpretation by DHA-licensed genetics specialist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
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 informed family planning.
| 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) | 2,800 | ~2,000 |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I understand the profound impact that a definitive genetic diagnosis can have on a family navigating a rare neurodevelopmental disorder. This NGS-based TSEN54 test provides the analytical depth necessary to identify causative variants with high confidence. However, all positive findings must be correlated with clinical presentation, neuroimaging, and followed by expert genetic counseling. Patients and families should never adjust or cease any prescribed therapeutic regimen without direct consultation with their treating physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication Continuity
Do not discontinue any prescribed medication or therapy without explicit guidance from your managing physician. Genetic test results complement clinical judgment but do not replace ongoing medical management.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent blood transfusion within the last two weeks or ongoing anticoagulant therapy without physician clearance may compromise sample integrity for DNA extraction and sequencing.
- Emergency Red Flags: If you or your child experiences new-onset seizures, sudden loss of consciousness, or acute neurological deterioration, seek immediate emergency medical care. Do not await genetic test results before receiving acute treatment.
Patient FAQ & Clinical Guidance
1. What is the TSEN54 gene test and why is it performed?
The TSEN54 test uses next-generation sequencing to identify pathogenic mutations in the TSEN54 gene responsible for pontocerebellar hypoplasia type 5 (PCH5). It is primarily ordered for infants and children presenting with microcephaly, profound developmental delay, and characteristic brain MRI findings. Confirming the genetic etiology enables precise prognostic counseling, family planning, and targeted supportive care.
2. How is the sample collected and is home collection available?
Specimen collection requires a standard peripheral whole blood draw or a dried blood spot on an FTA card. Our VIP Mobile Phlebotomy service provides at-home collection by certified professionals between 8 AM and 11 PM daily, with temperature-controlled cold-chain transport to our ISO-accredited laboratory for immediate processing.
3. When will I receive my results and how are they interpreted?
Results are delivered within three to four weeks and include a complimentary telephonic consultation with a DHA-licensed genetics specialist. The clinical report classifies variants according to ACMG/AMP standards, detailing pathogenic, likely pathogenic, and variants of uncertain significance to support your neurologist or geneticist in formulating a comprehensive management plan.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
This service strictly adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is encrypted and stored on HIPAA/GDPR-compliant servers under DHA regulatory oversight. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
ISO 9001:2015 Certification: INT/EGQ/2509DA/3139
Clinical & Logistical Metadata
| Test Name | TSEN54 Gene Sequencing – Pontocerebellar Hypoplasia Type 5 (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood or dried blood spot (FTA card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) – full coding region ±10 bp splice sites |
| ICD-10-CM Code | Q04.8 |
| LOINC Code | 54236-8 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians