Test Price
2,800 AED✅ Home Collection Available
SLC6A3 Gene Parkinsonism-Dystonia Infantile Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- ✓99.9% Diagnostic Sensitivity via ISO 9001:2015‑certified NGS with orthogonal validation.
- ✓VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily 8 AM–11 PM.
- ✓Post‑Test Clinical Guidance by DHA‑licensed medical geneticist & genetic counsellor via secure telehealth.
- ✓Direct Insurance Billing – WhatsApp verification & pre‑approval support at +971 54 548 8731.
Test Overview & Methodology
The SLC6A3 gene test detects pathogenic variants causing dopamine transporter deficiency syndrome (infantile parkinsonism‑dystonia) with NGS coverage of all coding exons and splice junctions. This test provides definitive molecular confirmation, guides early multidisciplinary interventions, and informs reproductive risk within 3–4 weeks.
| Feature | Our Test (Gold Standard) | Closest Alternative |
|---|---|---|
| Precision | 100% coding region coverage, single‑nucleotide & copy‑number variants | Targeted mutation panels – miss novel variants |
| Method | Next‑Generation Sequencing (NGS) with Sanger confirmation | Sanger sequencing (single‑gene) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
“As a DHA‑licensed consultant medical geneticist, I emphasise that this advanced genetic test is a cornerstone for diagnosing dopamine transporter deficiency syndrome. Early molecular confirmation enables timely symptomatic therapies, feeding support, and informed genetic counselling for your family. Clinical correlation with developmental history and neurological examination remains crucial.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory: Medication Safety
⚠ Do not discontinue prescribed medication without consulting your doctor. Abrupt cessation of dopaminergic or anticholinergic agents may provoke life‑threatening dystonic storms.
Exclusion Criteria & Red Flags
- Exclusion: Infants < 1 month – alternative capillary (heel‑prick) collection can be arranged; active febrile illness or vaccination within 48 hours; known coagulopathy (requires specialist clearance).
- Red Flags – Seek Immediate Emergency Care: Acute dystonic storm, oculogyric crisis, respiratory distress, status epilepticus, or sudden loss of consciousness. Inform the emergency team about the ongoing genetic evaluation for SLC6A3‑related disorder.
Patient FAQ & Clinical Guidance
1. What is the purpose of the SLC6A3 gene test for infantile parkinsonism‑dystonia?
This test identifies DNA mutations in the SLC6A3 gene to confirm dopamine transporter deficiency syndrome, enabling precise diagnosis and tailored management plans. The NGS‑based analysis detects both single‑nucleotide variants and copy‑number changes that disrupt dopamine reuptake, providing a molecular basis for the movement disorder and informing prognosis and genetic counselling.
2. How is the sample collected for infants, and is it painful?
A small blood sample is obtained via a gentle heel‑prick or venipuncture by a pediatric phlebotomist, immediately stabilised on an FTA card for DNA preservation. We use a one‑drop blood spot or standard venous draw, minimising discomfort. Home collection ensures the infant remains in a familiar environment; a topical anaesthetic can be applied if needed.
3. How long until results are available, and who interprets them?
Results are typically available within 3–4 weeks and are interpreted by a DHA‑licensed medical geneticist together with a clinical geneticist during a telemedicine consultation. The final report includes variant classification (ACMG guidelines), clinical correlation, and actionable recommendations for ongoing care, pharmacological management, and family screening.
UAE Regulatory & Data Privacy Adherence
UAE Regulatory Compliance & Accreditation:
This test is performed under DHA Facility License No. 1143 in strict adherence to 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. All sample logistics comply with ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and DHA/MOHAP standards. Home collection is a government‑approved healthcare support service.
Clinical & Logistical Metadata
| Test Name | SLC6A3 Gene Parkinsonism-Dystonia Infantile Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Venous or Heel-Prick) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | G24.1 (Dystonia due to genetic defect) |
| LOINC Code | 83091-6 (SLC6A3 gene full sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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