Test Price
320 AED✅ Home Collection Available
Spinocerebellar Ataxia Type 1 (SCA1) – ATXN1 Gene Mutation Test in UAE | 320 AED | 2026 DHA Guidelines
تحليل فحص طفرات جين ATXN1 للرنح النخاعي المخيخي من النوع الأول (SCA1) في الإمارات | 320 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
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 neurologists, ensuring clinical validity for early diagnosis and family planning.
خلاصة طبية موثوقة: يُقدّم هذا الفحص التشخيص الجيني الدقيق لمرض الرنح النخاعي المخيخي من النوع الأول عبر تحليل تضاعفات الـ CAG في جين ATXN1، بالاستناد إلى معايير هيئة الصحة بدبي ومنهجية تفاعل البوليميراز المتسلسل مع الرحلان الشعري. الاختبار مرخّص من وزارة الصحة ووقاية المجتمع، ويشمل خدمة سحب منزلي متوافقة مع سلسلة التبريد.
- Premium Logistics: Paid hospital‑grade home collection (8 AM – 11 PM) with ISO‑certified cold‑chain transport. No freezing – sample shipped refrigerated.
- Clinical Guidance: Complimentary telephonic post‑test interpretation by a genetic counsellor or neurologist 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.
What Is This Test? Overview
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.
يُستخدم فحص طفرة جين ATXN1 لتأكيد الإصابة بالرنح النخاعي المخيخي النوع الأول (SCA1) من خلال قياس عدد التكرارات الثلاثية للـ CAG بدقة جزيئية، مما يساعد في إدارة المريض وتوجيه فحوصات الأقارب.
| Feature | Our Test (ULTA Lab) | 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 2026 DHA / MOHAP and Federal Decree‑Law No. 41 of 2024 (Art. 87) | May lack UAE‑specific consent and data compliance |
Consultant Neurologist’s Insight & Safety Protocol
“As a DHA‑licensed neurologist, 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.”
— Dr. PRABHAKAR REDDY, DHA License 61713011, Consultant Neurologist
⚠ 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.
- Exclusion Criteria: Active bleeding disorder, 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.
Frequently Asked Questions (Bilingual)
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.
ما مدى دقة هذا الفحص في الكشف عن SCA1؟
يتمتع التحليل بحساسية تشخيصية تبلغ 99.9% ويحدد عدد تكرارات CAG لكل أليل. يمكن الاستشاري من خلال هذه الدقة تصنيف الحالة وتقديم الإرشاد الوراثي المناسب.
2. I’m asymptomatic but have a family history of ataxia – can I take this?
Predictive testing for a clinically unaffected individual is permitted under strict UAE genetic counselling protocols, following written informed consent per Federal Decree‑Law No. 41 of 2024. 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.
هل يمكنني إجراء الفحص إذا كنتُ لا أعاني من أعراض ولكن لديّ تاريخ عائلي؟
يُسمح بالفحص التنبؤي بعد جلسة إرشاد وراثي إلزامية وموافقة مستنيرة وفقًا للمادة 87 من المرسوم بقانون اتحادي رقم 41 لسنة 2024.
3. What happens if my sample is frozen or haemolysed during collection?
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 with Form 20 documentation to verify sample integrity upon receipt, eliminating false‑negative risks from degraded DNA.
ماذا يحدث إذا تجمدت العينة؟
نضمن سلسلة تبريد دقيقة لتفادي أي تجميد، وفي حال وجود خطأ لوجستي نُعيد السحب في نفس اليوم مجانًا.
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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