Test Price
2,800 AEDโ Home Collection Available
TPP1 Gene (Neuronal Ceroid Lipofuscinosis Type 2) Genetic Test in UAE โ 2,800 AED โ DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified 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 for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
- Core Metrics: Price 2,800 AED | Turnaround Time 3โ4 Weeks | Sample: Peripheral Blood or FTA Card
Test Overview & Methodology
The TPP1 gene NGS test detects pathogenic variants in the TPP1 gene, the cause of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2 disease), a severe neurodegenerative disorder. This advanced genetic analysis supports early diagnosis, carrier screening, and family planning with high precision. The test employs next-generation sequencing (NGS) with full gene coverage, including intronic regions and CNV detection where applicable.
| Feature | Our TPP1 NGS Test | Closest Alternative (Targeted Panels/Sanger) |
|---|---|---|
| Precision & Depth | Full gene analysis with high sequencing depth and CNV detection | Limited to known hotspots or single-exon coverage |
| Methodology | NGS (Next-Generation Sequencing) โ LC-MS/MS not applicable | Sanger sequencing or focused mutation panel |
| Turnaround Time | 3โ4 Weeks (guaranteed) | 4โ6 Weeks or longer |
| Clinical Integration | Includes expert geneticist interpretation & counseling note | Variant listing only, minimal clinical correlation |
| Price (AED) | 2,800 | 3,200โ4,500 |
Physician Insight & Safety Protocols
โThe TPP1 gene test provides molecular confirmation essential for diagnosing CLN2 disease, guiding enzyme replacement therapy eligibility, and enabling informed family counseling. As a consultant medical geneticist, I emphasize that results must be interpreted in the context of the full clinical picture and with a multidisciplinary team.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Pre-Test Requirements
A genetic counseling session is mandatory before testing. This session constructs a detailed family pedigree, documents any affected relatives, and ensures informed consent, psychological preparation, and accurate test interpretation. It aligns with best practices under Federal Decree-Law No. 4 of 2016 on Medical Liability.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Test not valid for patients who have received allogeneic blood transfusion or hematopoietic stem cell transplantation within the past 6 months; donor DNA may interfere with variant detection.
- Emergency: If you or your child experience sudden vision loss, intractable seizures, or rapid motor decline, seek immediate emergency care regardless of pending genetic test results.
- Do not delay standard medical care awaiting genetic confirmation.
Patient FAQ & Clinical Guidance
1. What is the purpose of this TPP1 NGS test?
This test detects TPP1 gene mutations to confirm Neuronal Ceroid Lipofuscinosis Type 2 disease, enable carrier screening, and inform family planning. The analysis covers the entire coding region of the TPP1 gene using next-generation sequencing to identify pathogenic variants, deletions, or duplications. It is the definitive diagnostic tool for CLN2 disease and aids in differentiating it from other neurodegenerative conditions.
2. How is the sample collected?
A small blood sample or a single drop on an FTA card is collected at home by certified phlebotomists. Our VIP Mobile Phlebotomy service uses ISO-certified cold-chain logistics to ensure sample stability. The collection is scheduled at your convenience between 8 AM and 11 PM daily, with all safety protocols followed and minimal discomfort. The sample is securely transported to our genetics laboratory for immediate processing.
3. How long do results take?
TPP1 gene sequencing results arrive in 3โ4 weeks after exhaustive NGS analysis and expert clinical confirmation. The turnaround time includes DNA extraction, library preparation, high-depth sequencing, bioinformatics pipeline analysis, and meticulous variant interpretation by a team of clinical geneticists. Urgent preliminary findings can be communicated upon request.
UAE Regulatory & Data Privacy Adherence
- All personal health data is processed under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) with encryption and anonymization.
- Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Health data handling complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Our laboratory holds ISO 9001:2015 Certification (Cert: INT/EGQ/2509DA/3139), ensuring rigorous quality management.
- Methodology validated per DHA and MOHAP guidelines.
Support & Booking: WhatsApp +971 54 548 8731 | Home Collection available 8 AM โ 11 PM daily.
Clinical & Logistical Metadata
| Test Name | TPP1 Gene (Neuronal Ceroid Lipofuscinosis Type 2) Genetic Test โ NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or FTA Card (Dried Blood Spot) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Analysis with CNV Detection |
| ICD-10-CM Code | E75.4 (Neuronal ceroid lipofuscinosis) |
| LOINC Code | 97746-5 (TPP1 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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