Test Price
2,800 AED✅ Home Collection Available
Galactosialidosis Genetic Test (CTSA Gene Sequencing) in UAE – 2800 AED
Executive Summary & Core Metrics
Clinical Accuracy: 99.9% diagnostic sensitivity via ISO 15189:2012 & ISO 9001:2015 accredited Next‑Generation Sequencing (NGS) workflow, validated against ACMG guidelines.
Logistics & Collection: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM.
Clinical Support: Post‑test telephonic clinical guidance by a DHA‑licensed Consultant Medical Geneticist for result interpretation.
Insurance & Billing: Direct insurance verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CTSA gene galactosialidosis genetic test identifies pathogenic variants in the CTSA gene responsible for galactosialidosis, a rare lysosomal storage disorder presenting with coarse facies, cherry‑red macula, and neurodegeneration. This advanced molecular diagnostic provides precise identification of disease‑causing mutations to guide clinical management and family counselling.
| Feature | Our Test (NGS Panel) | Closest Alternative |
|---|---|---|
| Methodology | Whole‑gene NGS with full coding region & splice site analysis, >100× coverage | Sanger sequencing of select exons only |
| Detection Rate | >99% for SNVs, small indels, and copy number variants | ~80%, misses deep intronic and large structural changes |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Sample Requirements | Whole blood (EDTA), extracted DNA, or DNA FTA card; cold‑chain transport | Whole blood only, ambient transport |
Physician Insight & Safety Protocols
“Comprehensive NGS analysis of the CTSA gene forms the cornerstone of molecular diagnosis for galactosialidosis. However, clinical correlation with biochemical markers such as urine oligosaccharides and leucocyte enzyme activity is indispensable. A negative sequencing result does not definitively exclude the disorder when clinical suspicion remains high; multidisciplinary collaboration with a metabolic specialist is strongly recommended for final interpretation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Advisory
Required Preparations
- A genetic counselling session is mandatory to construct a detailed pedigree chart of family members affected with galactosialidosis.
- Provide a complete clinical history; no fasting is required for sample collection.
- For paediatric patients, informed parental consent is mandatory as per UAE regulatory guidelines governing genetic testing in minors.
Safety Exclusion & Emergency Red Flags
Exclusion Criteria
- Active systemic infection that may interfere with sample quality.
- Incomplete family pedigree preventing accurate variant interpretation.
- Inability to provide informed consent or absence of legal guardian consent for minors.
Emergency Red Flags
- New‑onset seizures or acute neurological deterioration.
- Severe abdominal pain or unexplained loss of consciousness.
- If any of these symptoms occur, seek immediate emergency medical care without delay.
Patient FAQ & Clinical Guidance
1. What is the advantage of NGS for diagnosing galactosialidosis compared to traditional methods?
NGS delivers comprehensive analysis of all CTSA exons, flanking intronic regions, and copy number variants in a single test, eliminating the need for sequential enzyme assays and reducing time to diagnosis. This approach achieves a detection rate exceeding 99% for relevant pathogenic variants.
2. How long do results take and what sample type is required?
Standard turnaround time is 3–4 weeks from sample receipt. Acceptable specimens include whole blood collected in EDTA tubes, extracted DNA, or DNA FTA cards. All samples must be transported under strict temperature‑controlled cold‑chain conditions to preserve nucleic acid integrity.
3. Can this genetic test be performed on children in the UAE?
Yes, paediatric testing is available. UAE regulations require parental or legal guardian consent along with a mandatory pre‑test genetic counselling session. Our service fully complies with all applicable federal laws governing genetic testing in minors.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: This service strictly adheres to 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 encrypted, access‑controlled, and processed solely for diagnostic and clinical management purposes.
Clinical Safety & Patient Consent: All testing procedures comply with Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring informed consent, patient safety, and professional accountability throughout the diagnostic pathway.
Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Laboratory operations are conducted under DHA Facility License No. 1143.
Contact: Support & WhatsApp: +971 54 548 8731
Clinical & Logistical Metadata
| Test Name | Galactosialidosis Genetic Test (CTSA Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or DNA FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) – whole‑gene coverage with copy number variant analysis |
| ICD-10-CM Code | E77.1 |
| LOINC Code | 97370-3 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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