Test Price
2,800 AED✅ Home Collection Available
NAGA Gene Schindler Disease NGS Genetic Test in UAE | AED 2,800 | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity and specificity for NAGA pathogenic variants via ISO 15189:2022 accredited Next-Generation Sequencing.
- Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Oversight: Post-test telephonic genetic counseling session included with results report.
- Direct Billing: Insurance pre-verification and direct billing available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The NAGA Gene Schindler Disease NGS Test is a targeted genomic analysis of the alpha-N-acetylgalactosaminidase (NAGA) gene using clinical-grade Next-Generation Sequencing. This test is clinically indicated for the definitive diagnosis of Schindler disease (Types I and III), carrier detection in at-risk family members, and reproductive genetic counseling. Our bioinformatics pipeline provides comprehensive coverage of all coding exons, intronic boundaries, and the promoter region of the NAGA gene.
| Feature | DNA Labs UAE – Targeted NGS | Standard Whole Exome Sequencing (WES) |
|---|---|---|
| Genomic Depth | Full NAGA gene coverage including deep intronic regions; average read depth >500x | Variable coverage; may lack specific NAGA exon depth (>50x) sufficient for clinical reporting |
| Confirmation Method | All pathogenic and likely pathogenic variants confirmed via Sanger sequencing | Confirmation typically not included; separate Sanger billing may apply |
| Turnaround Time | 15–21 Working Days | 8–12 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognize that genetic testing for rare lysosomal storage disorders can be a complex and emotionally significant step for patients and families. The targeted NGS approach for the NAGA gene ensures high analytical sensitivity and specificity, which is critical for accurate diagnosis and informed family planning. Test results must always be correlated with clinical biochemical markers (e.g., alpha-N-acetylgalactosaminidase enzyme activity) and interpreted within the full clinical context by a qualified specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Clinical Advisory: Interpretation & Management
This genetic test provides diagnostic and carrier status information for Schindler disease. It does not replace immediate medical evaluation for acute metabolic symptoms. Patients must not discontinue or modify prescribed medications based solely on preliminary genetic findings. All results require confirmation and correlation with clinical, enzymatic, and biochemical data by the referring physician or a metabolic disease specialist.
⛔ Exclusion Criteria & Emergency Red Flags
- Laboratory Exclusion: Individuals who have received an allogeneic hematopoietic stem cell transplant (HSCT) or allogeneic bone marrow transplant within the past 12 months may have distorted germline DNA results. Buccal swab or cultured fibroblast specimens are recommended as alternatives for germline confirmation in these cases.
- Clinical Emergency: If the patient experiences unexplained vomiting, severe lethargy, hypotonia, seizures, or rapid neurological decline while awaiting genetic test results, immediate emergency medical assessment must be sought. This molecular test does not substitute for urgent clinical and biochemical evaluation.
Patient FAQ & Clinical Guidance
1. What is the NAGA Gene Schindler Disease NGS Test used for?
This molecular genetic test identifies pathogenic variants in the NAGA gene, which causes Schindler disease (Types I and III). It is used for confirming a suspected diagnosis, identifying asymptomatic carriers within families, and providing essential data for reproductive genetic counseling. The test targets the specific gene implicated in this rare lysosomal storage disorder to provide definitive, actionable results.
2. How is the sample collected for this genetic test?
The standard specimen is a peripheral whole blood sample collected in an EDTA tube. A DHA-licensed and experienced phlebotomist from DNA Labs UAE can perform the blood draw at your home or office via our VIP Mobile Phlebotomy service. For pediatric or remote cases, an FTA card (dried blood spot) is also accepted. Our logistics team ensures temperature-controlled transport to our ISO-accredited laboratory in Dubai Healthcare City.
3. How long does it take to receive the NAGA gene test results?
The technical turnaround time for the NAGA gene NGS test is 15 to 21 working days from the date the sample is accessioned into our laboratory. This includes sequencing, bioinformatics analysis, Sanger confirmation of significant findings, and clinical variant interpretation. A comprehensive genetic counseling report is issued, and a telephonic consultation with our genetics team is scheduled to explain the results and their clinical implications.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
- Data Privacy: All genetic data handling, storage, and processing is conducted in strict 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.
- Clinical Safety & Consent: Informed consent for genetic testing, data usage, and biobanking (if applicable) is obtained and documented according to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: DNA Labs UAE operates under DHA Facility License Number 1143 and adheres to ISO 15189:2022 standards for medical laboratory quality and competence.
Clinical & Logistical Metadata
| Test Name | NAGA Gene Sequencing & Schindler Disease Mutation Detection (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 15–21 Working Days |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) + Sanger Confirmation |
| ICD-10-CM Code | E77.1 (Deficiency of alpha-N-acetylgalactosaminidase) |
| LOINC Code | 81730-9 (NAGA gene mutation analysis in Blood) |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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