Test Price
2,800 AED✅ Home Collection Available
ENTPD1 Gene (SPG64) Next-Generation Sequencing – Genetic Test in Dubai, UAE
Executive Summary & Core Metrics
Clinically Verified Accuracy: 99.9% diagnostic sensitivity for pathogenic ENTPD1 variants, processed in our ISO 9001:2015 accredited facility (Cert: INT/EGQ/2509DA/3139).
Premium Home Collection: Paid hospital‑grade home phlebotomy available daily from 8 AM to 11 PM, including weekends, with temperature‑controlled cold‑chain transport.
Physician‑Guided Interpretation: Free post‑test telephonic consultation with a DHA‑licensed medical geneticist to discuss results in the context of your family history.
Direct Insurance Assistance: Verify coverage within minutes via WhatsApp at +971 54 548 8731 – we handle the paperwork.
Test Overview & Methodology
Clinical Summary
The ENTPD1 gene (SPG64) NGS test fully sequences all coding exons, splice sites, and deep intronic regions linked to hereditary spastic paraplegia type 64, enabling a definitive molecular diagnosis and precise family risk stratification.
Why Targeted NGS
Unlike broader exome sequencing, this focused assay provides ultra‑deep coverage (mean depth >500x) of the ENTPD1 locus, capturing even mosaic and low‑level variants that might be missed by panel‑based tests.
Why Choose This Test Over Common Alternatives?
| Parameter | Our ENTPD1 NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Gene Coverage | Focused, high‑depth sequencing of the entire ENTPD1 locus | All genes, but often suboptimal depth for deep intronic variants |
| Variant Sensitivity | >99% sensitivity for SNVs, indels, and copy‑number changes | ~85% sensitivity for the same variant types in ENTPD1 |
| Turnaround Time | 3–4 weeks | 4–6 weeks (plus additional variant interpretation time) |
| Cost (AED) | 2,800 | 3,500–5,000 |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasize that this targeted NGS test is the gold standard for confirming the molecular cause of hereditary spastic paraplegia type 64. A positive result provides a definitive diagnosis and informs prognosis, while a negative result should prompt further investigation for other genetic or acquired causes. Pre‑test genetic counselling is essential to fully understand the implications for you and your family.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Essential Precautions
- Do not discontinue any prescribed medications without consulting your treating neurologist.
- This test requires a pre‑test genetic counselling session and a recent clinical report from a neurologist.
- Results are not a standalone diagnosis; always interpret in the context of complete clinical evaluation.
- Seek immediate emergency care if you experience acute neurological symptoms such as sudden vision loss, severe headache, or rapid muscle weakness.
Patient FAQ & Clinical Guidance
1. What is the difference between this ENTPD1 NGS test and a basic genetic screening panel?
Our targeted NGS test sequences the complete ENTPD1 gene with over 99% sensitivity for even rare deep‑intronic mutations, far outsizing basic panel coverage. Unlike standard panels that only interrogate common exonic hotspots, this comprehensive assay identifies both known and novel pathogenic variants, giving you a definitive molecular result. The 3‑4‑week turnaround ensures time‑sensitive clinical decisions without the delays seen in broader exome sequencing.
2. Will my insurance cover the 2,800 AED cost?
We verify your insurance benefits in real time via WhatsApp and handle the paperwork, often securing direct billing for hereditary spastic paraplegia testing. Coverage depends on your policy’s genetic testing clause and a physician referral; our team will confirm eligibility before sample collection so there are no surprises. If your plan does not cover it, discounted self‑pay options are available.
3. Can I take this test without a doctor’s prescription?
A physician referral is mandatory because pre‑test genetic counselling is essential to understand the implications and obtain an accurate family pedigree chart. We connect you with a DHA‑licensed genetic counsellor who will draw a detailed three‑generation pedigree before the blood draw. This step ensures the test is interpreted correctly and that you receive appropriate psychosocial support — protecting your privacy under UAE PDPL law.
UAE Regulatory & Data Privacy Adherence
Data Protection: All genetic data is stored on encrypted servers with restricted access, in full compliance 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. Results are disclosed only to the authorized requesting physician and patient after explicit consent.
Medical Liability: Clinical testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ENTPD1 Gene (SPG64) Next-Generation Sequencing |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – targeted gene sequencing of the complete ENTPD1 locus including coding exons, splice sites, and intronic regulatory regions |
| ICD-10-CM Code | G11.4 |
| LOINC Code | 81664-5 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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