Test Price
2,800 AED✅ Home Collection Available
NPC1 Gene Niemann-Pick Disease Type C1 Genetic Test in UAE | 2800 AED | 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 in Result Interpretation
✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731
Test Overview & Methodology
The NPC1 gene test identifies pathogenic variants responsible for Niemann-Pick disease type C1, a rare and devastating metabolic disorder. Our next-generation sequencing (NGS) panel delivers a thorough analysis of the full coding region, enabling precise diagnosis and family risk assessment.
| Feature | Our Test (NPC1 NGS) | Closest Alternative (Targeted Panel) |
|---|---|---|
| Methodology | NGS – full gene sequencing | Limited to known hotspot mutations |
| Variant Detection | Novel & rare mutations captured | Misses ~15% of pathogenic variants |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Sample Accepted | Blood, Extracted DNA, or One-Drop FTA Card | Whole blood only |
Physician Insight & Safety Protocols
"As a consultant medical geneticist, I recognize the profound impact a definitive diagnosis can have on families living with the uncertainty of Niemann-Pick type C1. This NGS-based test provides the molecular confirmation needed to initiate targeted therapies and enable informed family planning. However, a negative result does not exclude the disease if strong clinical or biochemical indicators persist. Always correlate results with a complete neurological and hepatosplenic evaluation and engage a metabolic specialist for comprehensive management."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Important
Do not discontinue any prescribed medication (e.g., miglustat, anticonvulsants) without consulting your treating physician. Abrupt changes can precipitate acute neurological decline.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Absence of a documented clinical suspicion or family history; patient/guardian refusal of pre-test genetic counseling; inability to provide informed consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flags: Sudden loss of motor skills or swallowing, severe jaundice with hepatosplenic enlargement, unexplained seizures, or respiratory distress – seek emergency care immediately.
Patient FAQ & Clinical Guidance
1. What is the NPC1 gene test, and how can it help my family?
Snippet: The NPC1 gene uses NGS to detect disease-causing mutations in Niemann-Pick type C1, enabling early diagnosis, management, and informed family planning.
2. How long does it take to receive results, and what is the sample collection process?
Snippet: Results are typically available within 3 to 4 weeks after our VIP mobile phlebotomy team collects a blood, DNA, or FTA card sample from the comfort of your home.
3. Is home blood collection available across all UAE, and how is my privacy protected?
Snippet: Yes, our ISO 9001:2015-certified mobile phlebotomy service covers the entire UAE daily from 8 AM to 11 PM, with data protected under UAE PDPL (Federal Decree-Law No. 45 of 2021).
UAE Regulatory & Data Privacy Adherence
This test and all associated data handling comply with the 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. DNA Labs UAE operates under DHA Facility License No. 1143, ensuring strict adherence to national privacy and security standards.
Clinical & Logistical Metadata
| Test Name | NPC1 Gene Niemann-Pick Disease Type C1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene sequencing of NPC1 |
| ICD-10-CM Code | E75.242 |
| LOINC Code | 94070-5 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE |
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