Test Price
2,800 AED✅ Home Collection Available
TWNK Gene Infantile-Onset Spinocerebellar Ataxia (SCA) NGS Genetic Test | DNA Labs UAE
Executive Summary & Core Metrics
Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection.
- Clinical Guidance: Complimentary Pre- and Post-Test Genetic Counseling by DHA-Licensed Consultant.
- Insurance & Billing: Direct Billing Verification via WhatsApp +971 54 548 8731.
- DHA Facility License: 1143 | Dubai Healthcare City, UAE.
Definitive molecular diagnosis for infantile-onset spinocerebellar ataxia. This NGS test sequences the full TWNK gene, detecting pathogenic variants responsible for severe mitochondrial dysfunction.
Test Overview & Methodology
The TWNK Gene NGS Test identifies pathogenic variants in the twinkle helicase gene, which is essential for mitochondrial DNA replication. Infantile-onset spinocerebellar ataxia is a severe mitochondrial disorder characterized by progressive ataxia, epilepsy, hearing loss, and developmental regression. This definitive molecular diagnostic tool enables precise clinical management and informed genetic counseling for affected families in the UAE.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Method | NGS – Full TWNK gene sequencing (all exons & splice sites) | Targeted mutation panel / single-gene Sanger |
| Diagnostic Sensitivity | 99.9% (ISO-validated) | ~95% (may miss rare or novel variants) |
| Turnaround Time | 3–4 Weeks (fast-track available) | 4–6 Weeks |
| UAE DHA Compliance | Yes – DHA/MOHAP Standard Nomenclature | Variable |
Physician Insight & Safety Protocols
"Genetic testing for mitochondrial disorders like TWNK-related ataxia is a complex but critical step toward targeted management. Our approach combines high-fidelity sequencing with compassionate, comprehensive counseling to support families during this sensitive journey. The goal is not just a diagnosis, but a roadmap for care."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Pre-Test Genetic Counseling & Clinical Advisory
Important Clinical Advisory: Do not discontinue or alter any prescribed medications without consulting the treating physician. Abrupt withdrawal of therapies may worsen neurological symptoms. Test results must be interpreted by a DHA-licensed geneticist within the full clinical context. Informed consent and a three-generation pedigree are mandatory prior to sample collection.
Safety Exclusion Criteria & Emergency Indicators
Exclusion Criteria
- Acute febrile illness or active systemic infection
- Bleeding diathesis or uncorrected coagulopathy
- Absence of pre-test genetic counseling session
- Caregiver unable to provide informed consent
Emergency Indicators
- Sudden loss of consciousness or unresponsiveness
- Severe respiratory distress or apnea
- Uncontrolled seizures or status epilepticus
- Rapid motor deterioration with dysphagia
These criteria ensure patient safety. Our clinical team reviews all requisitions before scheduling sample collection.
Patient FAQ & Clinical Guidance
1. What is the TWNK gene and how does a mutation cause infantile-onset spinocerebellar ataxia?
The TWNK gene encodes the twinkle helicase, essential for mitochondrial DNA replication. Pathogenic variants lead to mitochondrial DNA depletion, triggering neurodegeneration in the cerebellum and brainstem. This presents as progressive ataxia, hypotonia, epilepsy, and sensorineural hearing loss within the first two years of life. Definitive diagnosis via NGS is critical for appropriate clinical management.
2. Why is next-generation sequencing (NGS) preferred over standard panels for this test?
Unlike targeted panels, NGS provides comprehensive coverage of all exons and flanking intronic regions of the TWNK gene. This maximizes the detection of novel or rare variants, achieving 99.9% diagnostic sensitivity and reducing false-negative rates. Comprehensive sequencing is crucial for accurate genetic counseling and recurrence risk assessment.
3. How is the VIP home blood collection arranged for my infant in the UAE?
Schedule a licensed pediatric phlebotomist via WhatsApp at +971 54 548 8731. We offer temperature-controlled cold-chain logistics across Dubai, Abu Dhabi, and Sharjah within 24 hours. A gentle 1-2 mL blood draw is performed using a pediatric butterfly needle; an FTA card requiring only a few drops is available for challenging venous access.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Legal Compliance
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): Ensures robust protection of personal data, including genetic information.
- 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 consultations.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Establishes the legal framework for clinical safety, patient consent, and medical responsibility.
- ISO 9001:2015 Certified (INT/EGQ/2509DA/3139): Internationally recognized quality management system for all laboratory processes.
- Corporate Lab Branding: DNA Labs UAE | DHA Facility License Number: 1143
- Physical Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
All genetic results are kept strictly confidential and shared only with the ordering physician and patient with explicit consent.
Clinical & Logistical Metadata
| Test Name | TWNK Gene Infantile-Onset Spinocerebellar Ataxia NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (1-2 mL) or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | G11.0 |
| LOINC Code | 94217-3 |
| DHA Facility License & Address | 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians