Test Price
2,800 AED✅ Home Collection Available
SETX Gene Ataxia-Oculomotor Apraxia Type 2 Genetic Test in UAE | 2,800 AED | DHA Licensed Molecular Diagnostics
Executive Summary & Core Metrics
This advanced SETX gene next-generation sequencing (NGS) assay provides definitive molecular diagnosis of ataxia-oculomotor apraxia type 2 (AOA2), a progressive autosomal recessive neurodegenerative disorder. Our ISO 9001:2015 accredited laboratory delivers 99.9% diagnostic sensitivity through high-depth Illumina® sequencing technology.
- Diagnostic Accuracy: 99.9% variant detection sensitivity across the entire SETX coding region.
- Home Collection Available: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection from 8 AM to 11 PM daily.
- Post-Test Guidance: Telephonic genetic counseling and result interpretation by a consultant medical geneticist.
- Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SETX gene NGS test interrogates the entire coding region and flanking intronic boundaries of the senataxin gene (SETX) to identify pathogenic variants causative of ataxia-oculomotor apraxia type 2. Our validated bioinformatics pipeline detects single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variants (CNVs) with industry-leading sensitivity and specificity.
Test Comparison: NGS Versus Sanger Sequencing
| Feature | SETX NGS Test (Our Laboratory) | Single-Gene Sanger Sequencing |
|---|---|---|
| Methodology | Illumina® High-Depth NGS (≥100× coverage) | Capillary-based Sanger |
| Variant Types Detected | SNVs, indels, CNVs, deep intronic variants | Exon-limited SNVs only; CNVs missed |
| Turnaround Time | 21–28 Business Days | 6–8 Weeks |
| Price | 2,800 AED | ~3,500 AED |
| Accreditation | ISO 9001:2015 | Variable by laboratory |
Physician Insight & Safety Protocols
"SETX gene sequencing provides a definitive molecular confirmation of ataxia-oculomotor apraxia type 2, which is essential for accurate genetic counseling, prognosis estimation, and cascade screening of at-risk family members. However, a negative result does not exclude other hereditary ataxias; comprehensive clinical and radiological correlation remains mandatory. Responsible interpretation within the context of the full clinical picture is critical."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠️ Do not discontinue or modify any prescribed medications based solely on genetic test results. Always consult your managing physician before making any changes to your treatment regimen.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active febrile illness or systemic infection – postpone sample collection until resolved.
- Exclusion: Severe anemia (hemoglobin <7 g/dL) – consult physician prior to blood draw.
- Emergency Red Flag: Sudden severe imbalance, loss of consciousness, or respiratory difficulty requires immediate emergency care.
- Emergency Red Flag: New-onset seizures or rapidly progressive visual decline warrants urgent hospital evaluation.
Patient FAQ & Clinical Guidance
1. What is the SETX gene test used for?
This test detects pathogenic variants in the SETX gene to confirm a diagnosis of ataxia-oculomotor apraxia type 2 (AOA2), a progressive hereditary neurodegenerative condition characterized by balance difficulties, eye movement abnormalities, and elevated alpha-fetoprotein levels.
2. Who is an appropriate candidate for this genetic test?
Individuals presenting with progressive cerebellar ataxia, oculomotor apraxia, and/or positive family history consistent with autosomal recessive inheritance. Elevated serum alpha-fetoprotein (AFP) further supports the clinical suspicion of AOA2.
3. How is the sample collected and when will results be available?
A licensed DHA phlebotomist collects a whole blood sample (lavender-top EDTA tube) or a dried blood spot (DBS) card at your home via our VIP Mobile Phlebotomy service. Results are reported within 21–28 business days from sample receipt at our laboratory.
4. Will insurance cover the cost of this test?
Coverage varies by insurance provider and policy. Our team can verify your direct billing eligibility — contact us via WhatsApp at +971 54 548 8731 to initiate a pre-authorization check.
UAE Regulatory & Data Privacy Adherence
Your genetic data is protected under UAE federal law. DNA Labs UAE fully complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, and storage of personal and genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating health information systems and electronic medical records.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — ensuring patient safety, informed consent, and clinical accountability.
All test results are transmitted via encrypted channels and stored in ISO-compliant secure servers with restricted access protocols.
Clinical & Logistical Metadata
| Test Name | SETX Gene Ataxia-Oculomotor Apraxia Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Business Days |
| Sample Type / Matrix | Whole Blood (Lavender Top EDTA Tube) or Dried Blood Spot (DBS) Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina® High-Depth Platform |
| ICD-10-CM Code | G11.3 |
| LOINC Code | 94206-2 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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