Test Price
1,500 AED✅ Home Collection Available
SCA-23 (Spinocerebellar Ataxia): PDYN Gene Mutation Test | 1500 AED | Dubai Healthcare City
Executive Summary & Core Metrics
Key Quality Indicators
- Diagnostic Accuracy: 99.9% sensitivity and specificity for pathogenic PDYN variants via ISO 9001:2015 certified processing – results are clinically actionable.
- Premium Logistics: VIP mobile phlebotomy with temperature-controlled cold-chain transport for sample integrity, available daily 8 AM to 11 PM.
- Post-Test Guidance: Complimentary telephonic consultation with a consultant medical geneticist to interpret your results.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731 before your appointment.
Test Overview & Methodology
This test detects pathogenic variants in the PDYN gene associated with Spinocerebellar Ataxia type 23 (SCA-23), a rare hereditary neurodegenerative disorder presenting with progressive cerebellar ataxia. Using targeted PCR and Sanger sequencing validated by next-generation sequencing, the test delivers a definitive molecular diagnosis within 5 working days, empowering neurologists and clinical geneticists across the UAE to initiate precise management and genetic counselling. A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory before sample processing.
| Feature | Our Test (Targeted PDYN Gene) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | Single-gene resolution with 100% PDYN coverage | Incidental findings risk, may require reflex testing |
| Methodology | PCR + Sanger Sequencing (NGS confirmed) | Massively parallel sequencing with bioinformatic filtering |
| Turnaround | Report within 5 working days (sample received by Tuesday 11 AM yields report by Saturday) | 4-8 weeks typical; higher cost |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403): “As a consultant medical geneticist practising in Dubai Healthcare City, I emphasise that detecting a pathogenic PDYN variant confirms a molecular diagnosis of SCA‑23. However, the result must be interpreted alongside a complete neurological examination and a three‑generation family pedigree. This test does not predict exact age of onset or disease severity; it confirms the genetic aetiology and guides counselling. Patients should continue all prescribed treatments unless their attending neurologist advises otherwise.”
Medication & Clinical Advisory
This genetic test provides diagnostic information only. Patients must not alter, stop, or adjust any prescribed medication or therapy based solely on test results. All treatment decisions require direct consultation with the managing neurologist. If you experience new or worsening symptoms, seek immediate medical evaluation rather than relying on genomic test outcomes.
Exclusion Criteria & Red Flags
- Testing is not recommended for asymptomatic minors without prior genetic counselling and documented parental mutation status, in accordance with UAE Federal Law No. 2 of 2019.
- This test is not a substitute for prenatal genetic counselling; invasive prenatal testing requires a specific referral from a maternal-fetal medicine specialist.
- Seek emergency care immediately if the patient experiences sudden onset of severe ataxia with dysphagia, respiratory distress, or rapid neurological deterioration. Acute neurological worsening must be evaluated in an emergency department, not through postal genomic testing.
Patient FAQ & Clinical Guidance
1. How accurate is the PDYN gene mutation test for diagnosing SCA-23?
Our targeted sequencing achieves greater than 99.9% sensitivity and specificity for pathogenic PDYN variants, validated against international genomic databases. When clinical suspicion is high based on neurological examination and family history, this test provides a definitive molecular diagnosis.
2. Can this test be performed on children in the UAE?
Yes, but genetic testing in minors requires informed parental consent and a clear clinical or family history indicating childhood-onset ataxia. The test must be ordered by a DHA-licensed neurologist or clinical geneticist, and pre-test genetic counselling is mandatory for the family.
3. What is the sample collection procedure and how soon do I receive results?
A 4 mL whole-blood sample is drawn into a lavender-top EDTA tube by a VIP mobile phlebotomist between 8 AM and 11 PM. The sample is refrigerated at 2-8°C and never frozen. If collected on Tuesday before 11 AM, the final report is delivered by Saturday. Standard turnaround is 5 working days from sample receipt.
4. Will my insurance cover the cost of this genetic test?
Coverage varies by insurance provider and policy. We recommend sending a WhatsApp message to +971 54 548 8731 with your insurance details before booking. Our team will verify direct billing eligibility and inform you of any out-of-pocket costs prior to sample collection.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
This service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient health information, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent processes adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is ISO 9001:2015 certified and holds DHA Facility License Number 1143 issued by the Dubai Health Authority. All genetic data is encrypted, access-controlled, and processed exclusively within the UAE jurisdiction. For insurance billing or assistance, contact us via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | SCA-23 (Spinocerebellar Ataxia): PDYN Gene Mutation Test |
| Price (AED) | 1500 AED |
| Turnaround Time | Report within 5 working days (sample received by Tuesday 11 AM yields report by Saturday) |
| Sample Type / Matrix | Whole blood (EDTA lavender top), 4 mL minimum, refrigerated transport |
| Methodology Used | PCR amplification and Sanger sequencing of PDYN gene coding regions, confirmed by next-generation sequencing (NGS) |
| ICD-10-CM Code | G11.8, G11.1, Z15.89 |
| LOINC Code | 94259-4 |
| DHA Facility License & Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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