Test Price
2,800 AED✅ Home Collection Available
VPS53 Gene Pontocerebellar Hypoplasia Type 2E Genetic Test in UAE
Executive Summary & Core Metrics
Executive Summary
This definitive Next-Generation Sequencing (NGS) test analyzes the entire coding region of the VPS53 gene to confirm or rule out Pontocerebellar Hypoplasia Type 2E (PCH2E), a severe autosomal recessive neurodevelopmental disorder. Conducted in our DHA-licensed, ISO 9001:2015 certified facility, the assay delivers 99.9% diagnostic sensitivity for relevant SNVs, indels, and copy number variations. Comprehensive pre- and post-test genetic counseling is included, alongside premium home collection services.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM - 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The VPS53 Gene Pontocerebellar Hypoplasia Type 2E NGS test detects pathogenic variants in the VPS53 gene, critical for diagnosing PCH2E, a condition presenting with profound intellectual disability, progressive microcephaly, and early-onset movement disorders. This test is indispensable for definitive diagnosis, carrier screening, and guiding reproductive planning in affected families.
| Feature | Our Test (NGS, UAE) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity for VPS53 SNVs/indels/CNVs | ~95% coverage of VPS53 exonic regions |
| Method | Targeted NGS with MLPA confirmation | Broad capture, often misses deep intronic variants |
| TAT | 3-4 Weeks | 6-12 Weeks |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I recognize that pursuing a genetic diagnosis for a child with neurodevelopmental regression can be emotionally overwhelming. This test provides families with a clear molecular answer, empowering informed medical management and future family planning decisions. However, results must always be interpreted in the context of complete clinical evaluation and genetic counseling.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Management
Do not discontinue any prescribed medication without consulting your physician. Genetic test results do not replace ongoing symptomatic care. Continue all treatments as directed by your healthcare provider.
Exclusion Criteria & ER Red Flags
- Inability to provide valid informed consent (for minors, legal guardian consent required per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Severe hemophilia or anticoagulant therapy preventing safe blood draw; consult our home collection team.
- Active febrile illness or acute infection does not invalidate the test but may affect biomarker studies if ordered concurrently.
- Urgent: If the patient experiences seizures, respiratory distress, or loss of consciousness, seek emergency medical care immediately. This test is not a replacement for acute intervention.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of this VPS53 genetic test for Pontocerebellar Hypoplasia Type 2E?
Using Next-Generation Sequencing with complementary MLPA analysis, this test achieves a 99.9% diagnostic sensitivity for all pathogenic variants in the VPS53 gene, validated against ISO 15189 standards to provide a definitive molecular confirmation for PCH2E.
2. How long does it take to get results, and does it include genetic counseling?
Results are typically available within 3 to 4 weeks. The price (2,800 AED) includes two genetic counseling sessions: one before and one after testing. Home collection service is also provided under DHA standards.
3. Can this test be used for prenatal diagnosis or carrier screening?
Yes, once a familial pathogenic variant is identified, targeted testing can be applied in chorionic villus sampling or amniocentesis for prenatal diagnosis. Carrier screening is available for at-risk relatives, all following UAE PDPL and DHA reproductive health regulations.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
- Data Protection: All genetic and health data processed under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Data is encrypted and stored locally.
- Health Information Technology: Compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability & Consent: Adherence to Federal Decree-Law No. 4 of 2016 on Medical Liability for safe clinical practices and informed consent.
- Laboratory Quality: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) for laboratory quality management.
- DHA Licensing: Facility License Number 1143 issued by Dubai Health Authority.
Home Collection Service: Available daily 8 AM to 11 PM | WhatsApp Support: +971545488731
Clinical & Logistical Metadata
| Test Name | VPS53 Gene Pontocerebellar Hypoplasia Type 2E Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (Standard Venipuncture) |
| Methodology Used | Next-Generation Sequencing (NGS) with MLPA Confirmation |
| ICD-10-CM Code | Q04.8 |
| LOINC Code | 98936-4 |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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