Test Price
2,800 AED✅ Home Collection Available
AFG3L2 Gene Spastic Ataxia Type 5, Autosomal Recessive Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل تسلسل الجين AFG3L2 للترنح التشنجي النوع الخامس المتنحي الجسدي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
الملخص التنفيذي: فحص جيني دقيق بنسبة 99.9% لتأكيد تشخيص الترنح التشنجي النوع الخامس المتنحي الجسدي وفق معايير هيئة الصحة بدبي، مع خدمة سحب منزلي معتمدة واستشارة طبية هاتفية بعد الفحص.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Overview
The AFG3L2 Gene Spastic Ataxia Type 5, Autosomal Recessive Genetic Test identifies pathogenic variants in the AFG3L2 gene, confirming the diagnosis of progressive spastic ataxia with cerebellar atrophy. This assay uses Next Generation Sequencing (NGS) with Sanger validation, delivering the highest diagnostic accuracy for clinical management and family planning.
يكشف هذا الفحص عن الطفرات المسببة للترنح التشنجي المتنحي الجسدي المرتبط بضمور المخيخ، ويعتمد على تقنية التسلسل الجيني المتقدم للحصول على أعلى دقة تشخيصية.
| Feature | Our Test (NGS + Sanger) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Next Generation Sequencing with confirmatory Sanger sequencing | Sanger sequencing alone |
| Turnaround Time | 3 to 4 Weeks | 6–8 Weeks |
| Diagnostic Sensitivity | >99.9% (full coding region coverage) | ~95% (may miss copy‑number variants) |
| Variant Reporting | ACMG‑classified, including VUS with clinical correlation | Limited ACMG annotation |
Physician Insight & Safety Protocol
“As a neurologist, I understand the anxiety surrounding genetic testing for hereditary ataxias. This test provides critical diagnostic clarity, but results must be interpreted in the context of your full clinical picture. I strongly advise you not to make any medication changes without consulting your treating physician.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠️ Medication Warning: Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Severe bleeding disorder or acute febrile illness
- Recent blood transfusion (within 4 weeks)
- Inability to provide informed consent
- Extreme needle phobia without support
Seek Emergency Care if:
- Acute or rapidly worsening ataxia
- Loss of consciousness or sudden confusion
- Acute visual disturbance or diplopia
- New‑onset seizures
Patient FAQ & Clinical Guidance
What is the AFG3L2 gene spastic ataxia type 5 test and what does it diagnose?
This Genetic Test identifies biallelic pathogenic variants in the AFG3L2 gene responsible for autosomal recessive spastic ataxia type 5, characterized by childhood-onset spasticity and cerebellar atrophy.
It is the definitive molecular confirmation for patients with clinical signs of progressive spastic paraparesis, dysarthria, and cerebellar atrophy on imaging. A positive result enables accurate genetic counselling, family screening, and informed management decisions.
يكشف الفحص الجيني بتقنية التسلسل المتقدم عن الطفرات الممرضة في جين AFG3L2 المسببة للترنح التشنجي المتنحي الجسدي النوع الخامس، والذي يتميز بتشنج تدريجي وضمور مخيخي.
How is the test performed and what sample is required?
A simple blood sample is collected via venipuncture and sequenced using next-generation sequencing technology with Sanger validation for the highest accuracy.
Our ISO‑certified cold‑chain logistics preserves sample integrity from home collection to analysis. No special preparation is needed; however, a prior genetic counselling session is mandatory to draw a complete family pedigree.
يتم سحب عينة دم وريدية بسيطة وتحليل الحمض النووي بتقنية التسلسل الجيني المتقدم مع التأكيد الجيني، دون الحاجة لتحضيرات خاصة، مع جلسة استشارة وراثية إلزامية.
What are the turnaround time, accuracy, and ISO credentials of the test?
Results are delivered within 3 to 4 weeks with 99.9% diagnostic sensitivity and variant confirmation under ISO 9001:2015 accredited laboratory protocols.
Every variant is reported following ACMG guidelines. The certification (Cert: INT/EGQ/2509DA/3139) guarantees adherence to international quality management standards, ensuring reliable and reproducible results.
تصدر النتائج خلال 3-4 أسابيع بدقة تشخيصية تصل إلى 99.9% مع تأكيد الطفرات وفق معايير مختبرية معتمدة عالميًا وبموجب شهادة ISO 9001:2015.
Legal & Regulatory Compliance: This service strictly adheres to UAE Federal Decree‑Law No. 41 of 2024 on Human Genetics (Art. 87) mandating pre‑ and post‑test genetic counselling, the Child Rights Law (Wadeema’s Law) for minors, and UAE PDPL data privacy regulations. All genetic data is processed through encrypted, DHA‑licensed facilities.
Pre‑ Information: A documented clinical history and a genetic counselling session are required to construct a detailed family pedigree of individuals affected with AFG3L2‑related spastic ataxia.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians