Test Price
2,800 AED✅ Home Collection Available
TPK1 Gene Thiamine Metabolism Dysfunction Syndrome Type 5 (THMD5) Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM.
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation by genetic experts.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TPK1 Gene NGS Test identifies pathogenic variants causing Thiamine Metabolism Dysfunction Syndrome Type 5 (THMD5), a rare autosomal recessive neurometabolic disorder. This test employs next‑generation sequencing to detect single nucleotide variants, small indels, and copy number variations across the entire coding region of TPK1.
Comparative Advantage: Our Test vs. Closest Alternative
| Feature | Our TPK1 NGS Test | Standard Sanger Sequencing |
|---|---|---|
| Method | Next Generation Sequencing (NGS) | Sanger Sequencing (single amplicon) |
| Variant Detection | Full gene: SNVs, indels, CNVs | Limited to targeted region only |
| Turnaround Time | 3 – 4 Weeks | 4 – 6 Weeks |
| DHA/ISO Compliance | Fully Certified | Variable |
| Pre‑test Counselling | Included (pedigree charting) | Often optional |
Physician Insight & Safety Protocols
“As a clinician, I understand the profound anxiety that accompanies a potential genetic diagnosis. This TPK1 test provides critical information for early intervention, tailored management, and informed family planning. However, results must be correlated with your clinical picture and reviewed by a qualified genetic counsellor or metabolic specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medication or supplements without consulting your doctor.
Thiamine supplementation or any metabolic therapy should only be altered under specialist guidance. This genetic test does not replace medical supervision.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Blood draw has no absolute contraindication, but individuals under 18 must have legal guardian consent in accordance with UAE Federal Law No. 2 of 2019 and PDPL.
- ER Red Flags: If you experience seizures, encephalopathy, loss of consciousness, or signs of metabolic crisis, seek emergency care immediately — this test does not replace acute medical intervention.
Patient FAQ & Clinical Guidance
1. What is the TPK1 gene test and how does it work?
This is a blood-based genetic test using next-generation sequencing to analyze the TPK1 gene for mutations causing Thiamine Metabolism Dysfunction Syndrome Type 5 (THMD5). The test includes pre‑test genetic counselling to map your family history.
2. How should I prepare for the test?
No fasting or medication changes are required. Our VIP mobile phlebotomy team will visit your preferred time (8 AM – 11 PM) using temperature‑controlled cold‑chain logistics. Please have your Emirates ID, insurance card (if applicable), and a brief clinical history ready for the genetic counsellor.
3. What is the turnaround time and cost?
Results for the TPK1 gene test are reported within 3 to 4 weeks. The total cost is 2,800 AED, inclusive of ISO‑certified laboratory analysis, variant classification, and a post‑test telephonic consultation with a genetic expert to explain the findings.
UAE Regulatory & Data Privacy Adherence
Governing Regulations: This test complies with the Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). DHA Facility License No. 1143.
Clinical Specialists involved: Consultant Medical Genetics (Lina Osama Zaki Quteineh, DHA ID 9294403) provides oversight for variant interpretation and clinical correlation.
Clinical & Logistical Metadata
| Test Name | TPK1 Gene Full Sequencing (Thiamine Metabolism Dysfunction Syndrome Type 5) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) – Illumina Platform |
| ICD-10-CM Code | E53.8 |
| LOINC Code | 94473-7 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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