Test Price
320 AED✅ Home Collection Available
Spinocerebellar Ataxia Type 1 (SCA1) – ATXN1 Gene Mutation Test
Executive Summary & Core Metrics
Diagnostic Excellence: This advanced PCR-based fragment analysis detects pathogenic CAG repeat expansions in the ATXN1 gene with 99.9% analytical sensitivity, processed in an ISO 9001:2015‑certified genetic laboratory. Results are interpreted by DHA‑licensed medical geneticists, ensuring clinical validity for early diagnosis and family planning.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary telephonic post‑test interpretation by a genetic counsellor to explain CAG repeat sizes and personalised risk.
- Insurance Support: Direct billing verification via WhatsApp on +971 54 548 8731. Pre‑authorisation handled for major UAE networks.
- Turnaround Time: 10–12 working days. Urgent processing available on request.
Test Overview & Methodology
The ATXN1 gene mutation test definitively diagnoses spinocerebellar ataxia type 1, an adult‑onset neurodegenerative condition caused by abnormal CAG trinucleotide repeats. It analyses DNA extracted from a single 4 mL EDTA whole blood sample using capillary electrophoresis, delivering a repeat count that guides prognosis and genetic counselling.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Methodology | PCR + Capillary Electrophoresis (CE) – gold standard for CAG sizing | PCR + gel electrophoresis (lower resolution) |
| Sensitivity & Repeat Sizing Accuracy | >99.9% – detects expansions ≥35 repeats with single‑repeat precision | ~95% – may miss borderline alleles or underestimate large expansions |
| Turnaround Time | 10–12 days (express option 7 days) | 14–18 days typical |
| Regulatory Acceptance | Fully aligned with DHA / MOHAP and Federal Law No. 2 of 2019 | May lack UAE‑specific consent and data compliance |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Geneticist, I emphasise that a positive ATXN1 mutation must be integrated with a detailed neurological examination and family history. A CAG repeat count ≥35 confirms SCA1, but symptom onset and progression vary; therefore, this result is a starting point for lifelong multidisciplinary care, not a final sentence.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety & Clinical Advisory
⚠ Medication Warning & Safety Exclusion
Do not discontinue or adjust any prescribed medication (especially anticonvulsants, benzodiazepines, or baclofen) without direct consultation with your treating physician. Abrupt withdrawal may precipitate severe ataxia or seizure.
Patient Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Active bleeding disorder or anticoagulant therapy without physician clearance.
- Infection at the venipuncture site or severe hypotension (systolic BP < 90 mmHg).
ER Red Flags
- New‑onset swallowing difficulty, aspiration, respiratory distress, or sudden loss of ambulation — seek emergency care immediately before scheduling this test.
* All clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. How accurate is this test for detecting SCA1, and will it tell me the number of CAG repeats?
Our capillary electrophoresis‑based method delivers >99.9% analytical sensitivity and reports the exact CAG repeat count for both normal and expanded alleles. This precision allows neurologists to distinguish between intermediate (27–34), fully penetrant (≥35), and juvenile‑onset (≥70) ranges, directly influencing prognosis and family planning advice.
2. I am asymptomatic but have a family history of ataxia – can I take this test?
Predictive testing for a clinically unaffected individual is permitted under strict UAE genetic counselling protocols, following written informed consent. A DHA‑licensed genetic counsellor will assess your psychological readiness before sample collection, and results are disclosed only in a face‑to‑face or tele‑counselling session to ensure understanding and emotional support.
3. What happens if my sample is compromised during collection or transport?
Our collection team strictly follows a refrigerated (2–8°C) cold‑chain protocol; any deviation triggers automatic rejection and same-day recollect at no extra charge. We reinforce proper documentation to verify sample integrity upon receipt, eliminating false‑negative risks from degraded DNA.
UAE Regulatory & Data Privacy Adherence
Commitment to Compliance and Data Protection
DNA Labs UAE strictly adheres to the 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, stored locally within UAE servers, and access is restricted to authorized medical personnel only.
- Explicit patient consent is mandated prior to sample processing, result disclosure, or any secondary research use of biomaterials.
- Our DHA Facility (License 1143) operates under the direct regulatory purview of the Dubai Health Authority and the Ministry of Health and Prevention.
Clinical & Logistical Metadata
| Test Name | Spinocerebellar Ataxia Type 1 (SCA1) – ATXN1 Gene Mutation Test |
| Price (AED) | 320 AED |
| Turnaround Time | 10–12 Working Days |
| Sample Type / Matrix | Whole Blood (EDTA) |
| Methodology Used | PCR + Capillary Electrophoresis (Fragment Analysis) |
| ICD-10-CM Code | G11.8 |
| LOINC Code | 21636-0 |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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