Test Price
2,800 AED✅ Home Collection Available
AFG3L2 Gene Spastic Ataxia Type 5, Autosomal Recessive Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
This genetic test delivers definitive molecular confirmation of autosomal recessive spastic ataxia type 5 through comprehensive AFG3L2 gene analysis, achieving diagnostic sensitivity exceeding 99.9% via next-generation sequencing with confirmatory Sanger validation.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM to 11 PM)
- Clinical Guidance: Telephonic Post-Test Genetic Counselling and Result Interpretation
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The AFG3L2 Gene Spastic Ataxia Type 5, Autosomal Recessive Genetic Test identifies biallelic pathogenic variants in the AFG3L2 gene, providing definitive molecular diagnosis for patients presenting with progressive spastic paraparesis, dysarthria, and cerebellar atrophy. The assay employs Next Generation Sequencing (NGS) of the entire coding region with confirmatory Sanger sequencing, ensuring comprehensive coverage and variant classification according to ACMG guidelines.
| 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 to 8 Weeks |
| Diagnostic Sensitivity | Greater than 99.9% (full coding region coverage) | Approximately 95% (may miss copy‑number variants) |
| Variant Reporting | ACMG‑classified including VUS with clinical correlation | Limited ACMG annotation |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I recognize the profound impact that definitive genetic diagnosis has on families navigating hereditary ataxias. This AFG3L2 gene test provides precise molecular confirmation, yet results must always be interpreted within the full clinical and family pedigree context. I strongly advise all patients to undergo comprehensive pre-test and post-test genetic counselling to fully understand the implications for themselves and their relatives."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or alter any prescribed medication without direct consultation with your treating physician. Genetic test results may inform future management but should never replace current clinical care.
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
1. 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, a condition characterized by childhood-onset spasticity, dysarthria, and progressive cerebellar atrophy.
It provides definitive molecular confirmation for patients with clinical signs of progressive spastic paraparesis and cerebellar atrophy on neuroimaging. A positive result enables accurate genetic counselling, cascade family screening, and informed management decisions regarding prognosis and family planning.
2. How is the test performed and what sample is required?
A standard peripheral venous blood sample is collected and analyzed using next-generation sequencing technology with Sanger confirmation to ensure maximum diagnostic accuracy.
Our ISO-certified cold-chain logistics preserve sample integrity from home collection through laboratory processing. No special preparation such as fasting is required; however, a mandatory pre-test genetic counselling session is needed to construct a complete three-generation family pedigree and discuss all possible outcomes.
3. What are the turnaround time, accuracy, and ISO credentials of the test?
Results are delivered within 3 to 4 weeks with greater than 99.9% diagnostic sensitivity and variant confirmation under ISO 9001:2015 accredited laboratory protocols.
Every identified variant is reported following ACMG guidelines with clear classification including pathogenic, likely pathogenic, variants of uncertain significance, and benign categories. The certification (Cert: INT/EGQ/2509DA/3139) guarantees adherence to international quality management standards ensuring reliable and reproducible results across all testing phases.
4. What are the benefits and limitations of this genetic test?
Benefits include definitive diagnosis, guidance for family planning, and eligibility for clinical trials or targeted therapies. Limitations include the possibility of variants of uncertain significance and the test does not assess for other genetic causes of ataxia.
A negative result does not entirely exclude a genetic aetiology and further testing for other ataxia-related genes may be recommended based on clinical presentation. The test is validated only for the AFG3L2 gene and does not evaluate mitochondrial or epigenetic causes.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This genetic testing service strictly adheres to the highest standards of patient data protection and clinical safety under UAE federal law. All genetic data is processed through encrypted systems within DHA-licensed facilities, ensuring complete confidentiality and lawful handling of sensitive health information.
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): Mandates strict data protection protocols for processing personal and genetic information, including explicit patient consent, data minimization, and secure storage.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Governs the secure handling of electronic health records and telemedicine services, ensuring encrypted data transmission and audit trails.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Establishes clear clinical accountability frameworks requiring informed consent, documented patient education, and professional standards for pre-test and post-test genetic counselling.
Clinical & Logistical Metadata
| Test Name | AFG3L2 Gene Spastic Ataxia Type 5, Autosomal Recessive Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next Generation Sequencing (NGS) with confirmatory Sanger validation |
| ICD-10-CM Code | G11.8 |
| LOINC Code | 81263-4 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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