Test Price
2,800 AED✅ Home Collection Available
CACNB4 Gene Episodic Ataxia Type 5 (EA5) Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين CACNB4 للرنح النوبي من النوع 5 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – UAE Clinical Excellence
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
فحص جيني متقدم باستخدام تقنية التسلسل الجيني من الجيل التالي (NGS) لتشخيص الرنح النوبي من النوع 5 المرتبط بجين CACNB4، بدقة تشخيصية 99.9% في مختبر حاصل على شهادة الأيزو، مع خدمة سحب منزلي متميزة وإرشاد طبي بعد النتيجة.
Overview – Test Purpose & Clinical Utility
The CACNB4 Gene Episodic Ataxia Type 5 (EA5) Genetic Test is a next‑generation sequencing analysis that detects pathogenic variants in the CACNB4 gene associated with episodic ataxia type 5, a hereditary neurological disorder characterized by recurrent episodes of incoordination and imbalance. Performed on blood or DNA, the test provides a definitive molecular diagnosis within 3–4 weeks, enabling personalized management, genetic counseling, and family risk assessment.
| Feature | Our Test – NGS Full Gene Analysis | Closest Alternative – Sanger Sequencing Panel |
|---|---|---|
| Precision / Coverage | Complete coding region & splice sites of CACNB4; >99.9% sensitivity for known and novel mutations | Targeted analysis of limited hotspot variants; may miss rare or novel mutations |
| Method | Next-Generation Sequencing (Illumina platform) with rigorous bioinformatic pipeline | Capillary Electrophoresis (Sanger) – lower throughput, variant‑by‑variant |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Clinical Utility | Gold standard for genetic confirmation, family screening, and management guidance | Suitable only when index case mutation known; limited discovery power |
Pre‑Test Information & Preparation
- A detailed clinical history (symptom onset, frequency, triggers) is required prior to testing.
- A genetic counseling session to construct a family pedigree of individuals affected with CACNB4‑associated episodic ataxia type 5 is strongly recommended.
- Sample type accepted: Whole Blood (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
- No fasting required; medication adjustments must be discussed with your physician.
Clinical Specialists & Interpreting Expertise
This genetic test is interpreted by a multidisciplinary team of UAE‑licensed experts, ensuring diagnostic accuracy and clinical correlation.
Neurologist
Specialist in movement disorders and ataxias; correlates genetic findings with clinical phenotype.
Clinical Geneticist
Provides variant classification, genotype‑phenotype integration, and family risk assessment.
Medical Geneticist
Oversees molecular methodology, bioinformatics pipeline, and quality control of NGS data.
Physician Insight & Safety Protocol
“As a neurologist, I emphasize that a positive CACNB4 mutation confirms the genetic basis of episodic ataxia type 5, yet clinical correlation with detailed neurological examination and family history remains essential. A negative result does not exclude other genetic or acquired causes of ataxia; patients should follow up with their primary neurologist for comprehensive evaluation.”
— Dr. PRABHAKAR REDDY, DHA License No. 61713011
⚠️ Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic test results must be interpreted in the context of ongoing treatment; abrupt changes may exacerbate ataxic episodes.
Safety & Exclusion Criteria
- Not for emergency diagnosis: Patients with acute, rapidly progressing neurological deficits or suspected stroke require immediate medical attention, not elective genetic testing.
- Contraindications for sample collection: Known bleeding disorder or therapeutic anticoagulation (relative) – discuss with healthcare provider before venipuncture.
- Legal limitation: Results should not be used as the sole basis for critical non‑medical decisions without additional genetic counseling and DHA‑compliant reporting.
🚨 Emergency Red Flags: Sudden severe headache, confusion, loss of consciousness, or seizures after blood draw – seek immediate emergency care.
Patient FAQ & Clinical Guidance
Q: What is the CACNB4 gene and how is it linked to episodic ataxia type 5?
Direct answer: The CACNB4 gene encodes a calcium channel subunit, and pathogenic mutations cause episodic ataxia type 5, a neurological disorder presenting with recurrent episodes of incoordination and imbalance.
س: ما هو جين CACNB4 وما علاقته بالرنح النوبي من النوع 5؟
الإجابة المباشرة: جين CACNB4 يشفر وحدة فرعية لقناة الكالسيوم، وتؤدي الطفرات المرضية إلى الرنح النوبي من النوع 5 الذي يتسم بنوبات متكررة من عدم التناسق الحركي واختلال التوازن.
Q: How accurate is this NGS test for diagnosing EA5, and what does a negative result mean?
Direct answer: With >99.9% sensitivity for coding region variants, a negative result significantly reduces the likelihood of EA5 due to CACNB4, but cannot rule out other genetic or acquired ataxias.
س: ما مدى دقة هذا الفحص الجيني لتشخيص الرنح النوبي من النوع 5، وماذا تعني النتيجة السلبية؟
الإجابة المباشرة: بدقة تتجاوز 99.9% للطفرات في المنطقة المشفرة، فإن النتيجة السلبية تقلل بشكل كبير احتمالية الإصابة بالرنح النوبي من النوع 5 المرتبط بجين CACNB4، لكنها لا تستبعد وجود أسباب وراثية أو مكتسبة أخرى للرنح.
Q: Is home blood collection available across the UAE, and how should I prepare for the test?
Direct answer: Yes, DHA‑licensed phlebotomists provide hospital‑grade home collection from 8 AM to 11 PM; maintain normal activities and hydration, and do not stop any medications unless advised by your doctor.
س: هل تتوفر خدمة السحب المنزلي في جميع أنحاء الإمارات، وكيف أستعد للفحص؟
الإجابة المباشرة: نعم، يقدم فنيو سحب الدم المرخصون من هيئة الصحة خدمة سحب منزلي بجودة المستشفيات من الساعة 8 صباحاً حتى 11 مساءً؛ حافظ على نشاطك الطبيعي وترطيب جسمك، ولا توقف أي دواء إلا بعد استشارة طبيبك.
To schedule your or verify insurance coverage, contact us 24/7:
+971 54 548 8731
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