Test Price
2,800 AED✅ Home Collection Available
NPC1 Gene (Niemann‑Pick Type C1) Genetic Test in UAE
Executive Summary & Core Metrics
Core Metrics
- Price: 2,800 AED
- Turnaround Time: 3–4 Weeks
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑certified NGS 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 & Billing: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The NPC1 Gene NGS Test analyses the entire coding region of NPC1 to detect pathogenic variants causing Niemann‑Pick disease type C1, a progressive neurodegenerative lysosomal storage disorder. Results guide neurologists, medical geneticists, and pediatricians in confirming diagnosis, carrier screening, and family planning.
| Feature | Our NPC1 NGS Test | Closest Alternative (Biochemical Assay) |
|---|---|---|
| Precision | Full gene sequencing with >99.9% sensitivity for SNVs, indels, CNVs | Indirect enzyme activity or filipin staining – lower specificity, may miss atypical forms |
| Methodology | Next‑Generation Sequencing (NGS) with MLPA confirmation | Sanger sequencing (limited to known hotspots) or enzymatic assay |
| Turnaround Time | 3–4 Weeks | 4–8 Weeks (biochemical testing often requires cultured fibroblasts) |
| Clinical Utility | Definitive molecular diagnosis, carrier status, prenatal/preimplantation options | Screening only; may require genetic confirmation for final diagnosis |
Physician Insight & Safety Protocols
“A positive NPC1 genetic result is a starting point—clinical correlation with neurological examination, imaging, and biomarker studies is essential. My team is here to guide you through every step, ensuring that the genomic data translates into timely, compassionate care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
⚠ Do Not Discontinue Prescribed Medication Without Consulting Your Doctor
Genetic testing does not replace ongoing neurological management. Always follow your physician’s guidance regarding medication adjustments.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients with severe coagulopathy or inability to provide a blood/DNA sample. Paediatric patients require pediatrician & genetic counsellor clearance.
- Emergency Red Flags: If the individual experiences sudden neurological deterioration (e.g., loss of consciousness, seizures, inability to swallow), proceed to the nearest emergency department immediately—do not wait for test results.
Patient FAQ & Clinical Guidance
1. What does the NPC1 gene NGS test diagnose?
This test identifies pathogenic variants in the NPC1 gene to confirm Niemann‑Pick disease type C1, a severe neurovisceral disorder, with complete sequencing coverage that enables definitive diagnosis and family risk assessment.
2. How should I prepare for the NPC1 test?
No fasting or medication adjustments are required for blood/DNA collection, but you must complete a pre‑test genetic counselling session to document family history and sign informed consent.
3. Can this test be used for prenatal diagnosis or carrier screening?
Yes, once a familial mutation is known, we can perform prenatal testing or assess carrier status for relatives; this provides actionable information for reproductive planning and early intervention.
UAE Regulatory & Data Privacy Adherence
Our laboratory operates under 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 processed with the highest privacy standards. Patient consent follows Federal Decree-Law No. 4 of 2016 on Medical Liability. Quality management is certified to ISO 9001:2015.
Clinical & Logistical Metadata
| Test Name | NPC1 Gene (Niemann‑Pick Type C1) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (DNA extract) |
| Methodology Used | Next‑Generation Sequencing (NGS) with MLPA confirmation |
| ICD-10-CM Code | E75.24 |
| LOINC Code | 81315-0 |
| DHA Facility License & Address | DHA License No: 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: 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