Test Price
2,600 AED✅ Home Collection Available
Next-Generation Sequencing (NGS) – Canavan Disease Test in UAE | ASPA Gene Analysis
Executive Summary & Core Metrics
- ✅ Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing.
- 🚑 Premium Logistics: VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection (Daily 8 AM – 11 PM).
- 🩺 Clinical Guidance: Telephonic post-test genetic counseling session included with every report.
- 📋 Insurance & Billing: Direct billing verification available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Next-Generation Sequencing (NGS) for Canavan disease targets the ASPA gene with full coding region analysis and orthogonal Sanger confirmation, delivering a definitive molecular diagnosis within 40 working days. This test is critical for neonates, infants, and at-risk families suspected of aspartoacylase deficiency, a severe autosomal recessive leukodystrophy with elevated prevalence in Middle Eastern populations due to founder mutations.
| Feature | Our Test (NGS + Sanger) | Standard Single-Gene Sanger |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity, full coding + splice sites | ~95%, limited to targeted exons only |
| Methodology | NGS + orthogonal Sanger validation | Sanger sequencing without orthogonal confirmation |
| Turnaround Time | 40 working days | 6–8 weeks (frequently delayed) |
Physician Insight & Safety Protocols
"In my practice managing genetic leukodystrophies, definitive molecular confirmation is the cornerstone of precise genetic counseling and family planning. This NGS assay offers comprehensive coverage of the ASPA gene with rigorous validation. It is imperative, however, that all results are interpreted within the complete clinical and biochemical context. A negative result does not exclude all metabolic leukodystrophies, and clinical management should never be altered solely based on a genetic report without consulting the managing specialist." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Advisory & Consent Framework
- Informed Consent: A mandatory Whole Exome Sequencing Consent Form (Form 37) must be signed by the legal guardian prior to sample collection, in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Genetic Counseling: Pre-test counseling with a qualified genetic counselor is strongly recommended to discuss potential findings, secondary findings, and implications for family members.
- Alternative Testing: If NGS is not clinically indicated, targeted Sanger sequencing or biochemical enzyme testing (aspartoacylase activity) may be discussed with your referring physician.
Exclusion Criteria & Emergency Red Flags
- Recent Transfusion: Blood transfusion within the last 4 weeks may interfere with molecular analysis. Please defer testing or consult your clinician.
- Pregnancy: Discuss the risks, benefits, and appropriate timing of testing with your genetic counselor if the patient is pregnant.
- Clinical Emergencies: If the child experiences sudden loss of developmental milestones, intractable seizures, or respiratory distress, seek immediate emergency medical care. Genetic testing does not replace acute clinical management or intervention.
Patient FAQ & Clinical Guidance
1. What is Canavan disease and how does NGS testing help?
Canavan disease is a severe, progressive genetic leukodystrophy caused by mutations in the ASPA gene, leading to aspartoacylase deficiency. NGS testing provides a definitive molecular diagnosis with 99.9% accuracy by sequencing the entire coding region and splice sites. This gold-standard approach confirms clinical suspicion, enables carrier screening, and informs prenatal planning, particularly crucial for populations where founder mutations elevate disease prevalence.
2. Is home collection safe for my child and how is sample integrity maintained?
Yes, our VIP Mobile Phlebotomy service is staffed by certified pediatric phlebotomists experienced in atraumatic blood collection. A 5–10 mL peripheral whole blood sample is collected into lavender-top EDTA tubes. The sample is immediately placed under temperature-controlled cold-chain logistics (2–8°C) for transit to the ISO-accredited laboratory. This ensures DNA integrity and reliable sequencing results. The service operates daily from 8 AM to 11 PM.
3. What post-test support and interpretive guidance do you provide?
Our comprehensive service includes a mandatory telephonic post-test genetic counseling session to explain your child's results, discuss clinical implications, and outline tailored next steps. We also facilitate direct communication between your referring neurologist or pediatrician and our molecular pathologists at no additional charge. Insurance reimbursement queries and direct billing verification are handled instantly via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
Your genetic data is sacred. Our handling of genetic information strictly complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): Ensuring your genetic and health data is collected, processed, and stored with the highest standards of consent, security, and confidentiality.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Governing all digital health records, telemedicine guidance, and electronic data interchange to prevent unauthorized access or breach.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Upholding patient safety, informed consent, and clinical accountability standards across all our diagnostic processes.
DNA Labs UAE is fully licensed by the Dubai Health Authority (DHA License No. 1143) and operates out of Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | Next-Generation Sequencing (NGS) – Canavan Disease (ASPA Gene) |
| Price (AED) | 2,600 AED |
| Turnaround Time | 40 Working Days |
| Sample Type / Matrix | Peripheral Whole Blood (Lavender Top EDTA Tube) |
| Methodology Used | Next-Generation Sequencing (NGS) with Orthogonal Sanger Validation |
| ICD-10-CM Code | E75.2 |
| LOINC Code | 94772-7 |
| DHA Facility License & Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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