Test Price
2,800 AED✅ Home Collection Available
NPC2 Gene Niemann-Pick Disease Type C2 Genetic Test in Dubai | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- 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 with DHA-licensed genetic counsellors.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The NPC2 Gene Niemann-Pick Disease Type C2 Genetic Test analyses the entire coding region of the NPC2 gene using next‑generation sequencing to detect pathogenic variants responsible for this rare, progressive lysosomal storage disorder. This comprehensive test enables early diagnosis, carrier screening, and informed family planning for UAE families, aligning with DHA precision medicine guidelines.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | Full‑gene NGS with copy number variant detection | Biochemical enzyme assay or single‑variant PCR |
| Method | Next Generation Sequencing (NGS) | Colorimetric substrate analysis / Sanger sequencing limited to known hotspots |
| Speed | 3–4 Weeks (ISO‑accredited cold‑chain handling) | 4–6 Weeks (enzyme assay) or 2–3 Weeks (targeted panel) |
| Regulatory | DHA/MOHAP‑aligned, ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | May not include full gene analysis or UAE‑specific reporting |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403 notes: “A positive NPC2 variant must be interpreted alongside biochemical markers and clinical imaging; this test alone cannot predict disease severity. I strongly urge every patient to review results with a metabolic geneticist or neurologist. This test is a critical step, but it is not the final word in your diagnosis.”
Essential Safety & Exclusion Criteria
Safety Advisory
- Exclusion: Patients unable to provide a venous blood sample or dry blood spot (e.g., severe haemophilia without specialist clearance).
- Exclusion: Active severe infection or febrile illness at time of collection – reschedule for at least 2 weeks after recovery.
- ER Red Flag: If the individual experiences new‑onset seizures, sudden loss of motor skills, or severe respiratory distress, proceed immediately to the nearest emergency department and inform them of the suspected metabolic disorder.
- Pre‑test Requirement: A genetic counselling session to construct a three‑generation pedigree and obtain informed consent is mandatory prior to sample collection, as per DHA genetic testing regulations.
Patient FAQ & Clinical Guidance
1. What is the NPC2 gene test for Niemann‑Pick disease type C2?
This next‑generation sequencing test identifies disease‑causing mutations within the NPC2 gene, providing definitive molecular confirmation of Niemann‑Pick disease type C2. It is recommended for individuals with developmental delay, hepatosplenomegaly, or abnormal vertical gaze, and for family members at risk. Results guide clinical management, therapy eligibility, and reproductive options.
2. What sample is required and how is it collected?
We accept whole blood (3–5 mL in EDTA tube), extracted DNA, or a one‑drop blood sample on an FTA card. Our home collection service deploys a DHA‑licensed phlebotomist using a cold‑chain transport kit to preserve DNA integrity. The process is painless, takes less than 10 minutes, and is suitable for all ages, including infants.
3. How long does it take to receive results and what support is provided afterwards?
Turnaround time is 3 to 4 weeks from sample arrival at our ISO‑accredited laboratory. Once results are ready, you will receive a secure electronic report and a complimentary 20‑minute teleconsultation with a DHA‑certified clinical geneticist to interpret findings, discuss implications, and plan next steps.
4. Who should consider this test?
This test is recommended for individuals with unexplained developmental delay, hepatosplenomegaly, ataxia, or vertical supranuclear gaze palsy. It is also offered for carrier screening in families with a known NPC2 mutation, and for prenatal diagnosis following genetic counselling.
5. Is genetic counselling mandatory before testing?
Yes, as per DHA regulations, a mandatory genetic counselling session is required before sample collection. This session constructs a three‑generation pedigree, discusses the implications of results, and obtains informed consent. Our genetic counsellors are available to guide you through this process.
UAE Regulatory & Data Privacy Adherence
This test is ordered by Clinical Geneticists, Neurologists, and General Physicians (Primary Care). It is fully compliant 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. All clinical safety procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic counselling is mandatory prior to testing. Laboratory accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | NPC2 Gene Niemann-Pick Disease Type C2 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | E75.24 |
| LOINC Code | 82298-6 |
| DHA Facility License & Laboratory Address | Facility License: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians