Test Price
2,800 AED✅ Home Collection Available
TSEN54 Gene Pontocerebellar Hypoplasia Type 2A Genetic Test in UAE – Next-Generation Sequencing
Executive Summary & Core Metrics
This advanced genetic test uses Next-Generation Sequencing to deliver 99.9% diagnostic sensitivity for detecting pathogenic variants in the TSEN54 gene associated with Pontocerebellar Hypoplasia Type 2A. The test is performed in an ISO-accredited laboratory under DHA Facility License 1143, ensuring compliance with UAE data protection and health information laws.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TSEN54 gene test employs high-depth Next-Generation Sequencing on the Illumina® platform to analyze the entire coding region and splice sites. It detects single nucleotide variants, small insertions/deletions, and cryptic splice mutations responsible for Pontocerebellar Hypoplasia Type 2A, an autosomal recessive neurodevelopmental disorder. Results are delivered within 3–4 weeks to guide pediatric neurology management.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99% sensitivity and specificity for single nucleotide variants, indels, and cryptic splice sites | 97–98% for targeted exons only |
| Method | High-depth NGS with Illumina® platform and full bioinformatic annotation | Bidirectional Sanger analysis of one exon at a time |
| Turnaround Time | 3–4 weeks from sample receipt | 6–8 weeks |
| Compliance | DHA/MOHAP 2026 standard nomenclature, ISO 9001:2015 facility | May vary; often lacks UAE-specific accreditation |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specialist, I understand how overwhelming it is to pursue a genetic diagnosis for your child. The TSEN54 result must always be correlated with the full clinical picture—neuroimaging, developmental history, and family pedigree. Please consult a pediatric neurologist or genetic counselor to translate this genetic finding into a compassionate, individualized care plan."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Advisory Notice: Do Not Discontinue Medications
Do not discontinue any prescribed medication without consulting your doctor. Results should be interpreted in conjunction with clinical evaluation and neuroimaging findings.
Exclusion Criteria & Emergency Red Flags
- Test not intended for asymptomatic individuals without a family history of pontocerebellar hypoplasia.
- Not a substitute for forensic or legal parentage testing.
- Specimens that do not meet collection volume or integrity criteria will be rejected.
- Seek immediate emergency care if the patient experiences seizures, respiratory distress, or loss of consciousness.
Patient FAQ & Clinical Guidance
1. What does the TSEN54 gene test detect?
This NGS test detects pathogenic variants in the TSEN54 gene responsible for Pontocerebellar Hypoplasia Type 2A, providing a definitive diagnosis. It analyzes the entire coding region and splice sites to identify even rare mutations missed by older methods.
2. How is the sample collected and what is the turnaround time?
A simple blood draw or saliva sample is collected via our DHA-licensed mobile phlebotomy service, and results return in 3–4 weeks. Our cold-chain logistics ensure specimen integrity from your doorstep to the ISO-certified laboratory.
3. Is this test legally valid in the UAE and covered by insurance?
Yes, the test complies with 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. Most insurers reimburse with prior verification. We provide direct billing support and a formal medical report accepted by all DHA-certified clinicians.
UAE Regulatory & Data Privacy Adherence
This service strictly adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 on the Use of Information and Communication Technology in Health Fields. All genetic data is processed within ISO 9001:2015 certified facilities under DHA Facility License 1143. For privacy inquiries, contact our Data Protection Officer via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | TSEN54 Gene Sequencing (Pontocerebellar Hypoplasia Type 2A) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 14–21 calendar days |
| Sample Type / Matrix | Whole Blood (3-5 mL EDTA) or Saliva (Oragene DNA Kit) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina® Platform, High-Depth Coverage |
| ICD-10-CM Code | Q04.8 (Other specified congenital malformations of brain) |
| LOINC Code | 76006-3 (TSEN54 gene full mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 · Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE · DNA Labs UAE |
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