Test Price
2,800 AED✅ Home Collection Available
CACNA1A Gene Spinocerebellar Ataxia Type 6 (SCA6) Genetic Test | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Executive Summary
This comprehensive Next‑Generation Sequencing (NGS) analysis targets the entire CACNA1A gene to definitively diagnose autosomal dominant Spinocerebellar Ataxia Type 6 (SCA6). Delivered under DHA‑regulated protocols with ISO 9001:2015 certified laboratory processing at DNA Labs UAE, the test guarantees 99.9% diagnostic sensitivity.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post‑Test Consultation for result interpretation by a DHA‑licensed medical geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CACNA1A gene encodes a calcium channel subunit critical for Purkinje neuron function. Mutations cause Spinocerebellar Ataxia Type 6, a late‑onset autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia, dysarthria, and nystagmus. This NGS genetic test provides molecular confirmation for this hereditary condition when a family history or suggestive clinical symptoms are present.
Pre-Test Requirements
A pre‑test genetic counselling session to draw a pedigree chart of family members affected with SCA6 is strongly recommended. Provide a detailed clinical history of the patient. No special fasting is required; sample types accepted: Whole Blood (standard venipuncture), Extracted DNA, or One Drop Blood on FTA Card. All specimens must be transported under cold‑chain conditions. Do not discontinue any prescribed medication without consulting your physician.
| Parameter | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity for pathogenic variants in CACNA1A | Detects known mutations only; may miss novel variants |
| Methodology | Full‑gene Next‑Generation Sequencing with copy‑number analysis | Targeted Sanger sequencing of selected exons |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks (often with reflex to broader panels) |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I understand that a genetic diagnosis of SCA6 can feel overwhelming, but this NGS test provides the definitive molecular answer you need to plan for the future. Always correlate the genetic result with a thorough neurological examination and family history before making any clinical decisions. My commitment is to guide you through the interpretation with empathy and evidence‑based care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory: Medication Continuation
Do not discontinue any prescribed medication without consulting your doctor. This genetic test does not replace ongoing neurological management. Always seek medical advice before altering your treatment regimen.
Safety Exclusion Criteria & Emergency Red Flags
- Patients unable to provide informed consent or minors without parental/guardian approval (in strict compliance with UAE medical liability laws).
- Acute hospitalisation or unstable medical condition that would compromise safe sample collection.
- Prior receipt of an allogeneic bone marrow transplant, which may interfere with germline DNA analysis.
- ER Red Flags: If you experience sudden loss of consciousness, severe breathing difficulty, or a rapidly worsening ataxic gait, proceed to the nearest emergency department immediately. A positive test result is not a medical emergency but new neurological deficits require urgent evaluation.
Patient FAQ & Clinical Guidance
1. What is the clinical purpose of the CACNA1A SCA6 NGS test?
This NGS test provides definitive genetic confirmation of autosomal dominant spinocerebellar ataxia type 6 (SCA6). It identifies missense, nonsense, splice‑site, and exon‑level copy number variants in the CACNA1A gene. Conclusive results enable accurate genetic counselling, prognosis, and eligibility for emerging disease‑modifying therapies under research protocols in the UAE.
2. How should I prepare for this test?
Pre‑test genetic counselling and a detailed family pedigree chart are strongly recommended before sample collection. Document any existing neurological symptoms and bring previous MRI reports. There is no fasting requirement; however, inform the phlebotomist of any anticoagulant therapy. The sample must be taken by a trained professional using aseptic technique and immediately placed in the designated cold‑chain kit.
3. What do I do if I test positive for SCA6?
If you test positive, immediately consult your neurologist to discuss management options and family implications. A positive result confirms the diagnosis but does not predict exact disease progression. Your specialist will recommend symptomatic treatment, physiotherapy, and regular neurological follow‑up. Genetic counselling for at‑risk relatives is essential to enable informed family planning decisions.
UAE Regulatory & Data Privacy Adherence
This genetic test is conducted in full alignment with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory operates under DHA Facility License Number 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE, with ISO 9001:2015 certification. All patient data are encrypted, stored within UAE sovereign servers, and never shared without explicit informed consent.
Clinical & Logistical Metadata
| Test Name | CACNA1A Gene Spinocerebellar Ataxia Type 6 (SCA6) Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) with copy‑number variation analysis |
| ICD-10-CM Code | G11.2 (Spinocerebellar ataxia, unspecified) |
| LOINC Code | 82996-8 (CACNA1A gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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