Test Price
2,800 AED✅ Home Collection Available
NEU1 Gene (Neuraminidase Deficiency) Sequencing Test – AED 2,800 | DNA Labs UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity via NGS (Illumina® platform) – detects SNVs, indels, and CNVs in the NEU1 gene.
- Sample Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – daily 8 AM to 11 PM.
- Turnaround Time: 3–4 weeks from sample receipt with expedited reporting available upon request.
- Clinical Guidance: Complimentary pre- and post-test telephonic consultation by a DHA-licensed Consultant Medical Geneticist.
- Price: AED 2,800 – inclusive of genetic counseling, sequencing analysis, and final clinical report. Direct insurance billing verification via WhatsApp +971 54 548 8731.
This definitive molecular test screens the entire coding region of the NEU1 gene to confirm neuraminidase deficiency (sialidosis types I and II). Designed for UAE patients and at-risk families, it provides accurate genotyping with full clinical support and adherence to UAE data protection standards.
Test Overview & Methodology
This next-generation sequencing (NGS) analysis interrogates all coding exons and flanking intronic regions of the NEU1 gene to identify pathogenic and likely pathogenic variants responsible for neuraminidase deficiency (sialidosis). DNA is extracted from a peripheral whole blood sample, dried blood spot (FTA card), or previously extracted DNA, then sequenced on an Illumina® platform with ≥30x coverage depth. Variants are classified according to ACMG/AMP guidelines and confirmed by Sanger sequencing when required. The final report includes variant interpretation, zygosity status, and clinical recommendations for family screening and therapeutic eligibility.
| Parameter | Our Test: NGS NEU1 Analysis | Alternative: Traditional Enzyme Assay |
|---|---|---|
| Precision | >99.9% sensitivity; detects SNVs, indels, and CNVs | Variable (70–85% sensitivity); false negatives possible |
| Method | Next Generation Sequencing (Illumina® platform) | Biochemical neuraminidase activity assay |
| Speed | 3–4 weeks from sample receipt | 4–6 weeks (may require repeat sampling) |
| Clinical Actionability | Definitive genotype; guides family screening and therapy eligibility | Biochemical confirmation only; no genetic counseling data |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I see the value of precise molecular confirmation in lysosomal storage disorders. This NGS analysis provides high-fidelity detection of NEU1 variants, yet clinicians must remember that a negative result does not exclude other neurometabolic conditions. Correlation with clinical phenotype, enzyme activity, and imaging is essential. I always advocate for pre-test genetic counseling to discuss recurrence risks and psychosocial impact before proceeding with testing.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Critical Exclusion Criteria & Emergency Red Flags
Do Not Proceed Without Medical Clearance
- Contraindicated: Patients who have received an allogeneic blood transfusion or bone marrow transplant within the past 120 days must defer testing – donor DNA can cause false genotype assignment.
- Pregnancy Consideration: Hormonal changes may alter biomarker levels; genetic testing is permitted but results must be interpreted in the context of pregnancy status.
- Emergency Alert: If the patient experiences acute neurological deterioration (seizures, loss of consciousness, sudden vision loss) or severe abdominal pain, seek immediate emergency care. This test is not indicated for acute crisis evaluation.
Medication Advisory
Do not discontinue any prescribed medication or supplement without explicit instruction from your treating physician. This genetic test is a diagnostic adjunct and does not replace ongoing clinical management or treatment decisions.
Patient FAQ & Clinical Guidance
1. What is the NEU1 gene test and how does it work?
Answer: The NEU1 gene test uses next-generation sequencing to detect disease-causing mutations in the NEU1 gene, confirming a diagnosis of neuraminidase deficiency (sialidosis). DNA is extracted from a blood sample, FTA card, or extracted DNA, then the entire NEU1 coding region is sequenced. Variants are classified per ACMG guidelines, and the report identifies whether two pathogenic variants are present, consistent with autosomal recessive sialidosis. The result supports management decisions, family planning, and eligibility for emerging therapies. Pre-test genetic counseling is included to review family history and explain possible outcomes.
2. Who should consider this test and what specialists are involved?
Answer: Individuals with unexplained progressive myoclonus, cherry-red spot maculae, coarse facial features, or a family history of sialidosis should consider testing. Asymptomatic siblings of confirmed patients are also candidates. The primary specialists involved include a Consultant Medical Geneticist (variant interpretation and counseling), a Pediatric Neurologist (neurological evaluation for myoclonic epilepsy and ataxia), and a General Practitioner (initial recognition and referral). UAE regulations require informed consent from parents or guardians for minors under Federal Decree-Law No. 45 of 2021 and Federal Law No. 2 of 2019.
3. How should I prepare for sample collection and what is the cost?
Answer: No fasting or medication changes are required unless directed by your physician. A certified phlebotomist will collect either a whole blood sample (EDTA tube), a few drops on an FTA card, or a previously extracted DNA specimen. The included genetic counseling session can be conducted virtually to document family history and explain the testing pathway. The total price is AED 2,800 with a 3–4 week turnaround time. For insurance verification, send a photo of your Emirates ID and insurance card via WhatsApp to +971 54 548 8731; we respond within minutes. Our facility holds ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and DHA License No. 1143.
4. What turnaround time can I expect and how are results delivered?
Answer: Results are typically available within 3–4 weeks from sample receipt at the laboratory. You will receive a comprehensive clinical report via secure email and a physical copy if requested. The report details all detected variants, their pathogenicity classification, and clinical recommendations. A follow-up telephonic consultation with the Consultant Medical Geneticist is provided at no additional charge to discuss the findings and next steps.
5. Is the test covered by insurance and can home collection be arranged?
Answer: Yes, direct billing verification is available. Send your Emirates ID and insurance card via WhatsApp to +971 54 548 8731 for a coverage check within minutes. Home collection is available daily from 8 AM to 11 PM via our VIP Mobile Phlebotomy service, which uses temperature-controlled cold-chain logistics to ensure sample integrity. A certified phlebotomist will visit your home or office at a time that suits you.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance
This genetic testing service operates 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. All genetic data is stored and processed within UAE-based ISO 9001:2015 certified facilities (Cert: INT/EGQ/2509DA/3139). Patient consent, data minimization, and purpose limitation are enforced. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds DHA Facility License No. 1143 and complies with Dubai Healthcare City regulatory standards.
Clinical & Logistical Metadata
| Test Name | NEU1 Gene (Neuraminidase Deficiency) Sequencing Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina® Platform with Sanger confirmation |
| ICD-10-CM Code | E77.1 |
| LOINC Code | 95025-7 |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, 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