Test Price
2,800 AEDโ Home Collection Available
THAP1 (DYT6) Gene Sequencing Test (NGS) in UAE | 2,800 AED
Executive Summary & Core Metrics
๐ฌ 99.9% Diagnostic Sensitivity โ ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
๐ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
๐ Clinical Guidance: Complimentary Post-Test Telephonic Clinical Guidance to Interpret Your Results.
๐ณ Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The THAP1 (DYT6) NGS test utilizes targeted next-generation sequencing to analyze the entire coding region and splice sites of the THAP1 gene. This test identifies pathogenic variants responsible for early-onset primary dystonia (DYT6), enabling precise diagnosis and informed clinical management for patients in the UAE under DHA and MOHAP standards.
| Parameter | This NGS Test | Conventional Sanger Sequencing |
|---|---|---|
| Analytical Precision | >99.9% sensitivity & specificity for single nucleotide variants and small indels | ~98% per amplicon; may miss large deletions or copy number variants |
| Methodology | Next-Generation Sequencing (NGS) with full exon coverage and bioinformatics analysis | Sanger sequencing (single amplicon per exon) |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Registration ID: 9294403):
โA positive THAP1 result confirms a genetic predisposition to DYT6 dystonia, yet clinical expression varies widely. This test must be interpreted alongside a detailed neurological examination and three-generation family pedigree. Mandatory pre- and post-test genetic counseling is essential to guide reproductive decisions and initiate timely interventions such as deep brain stimulation evaluation. Never alter prescribed treatment without consulting your physician.โ
โ ๏ธ Medication Advisory
Do not discontinue any prescribed medication without consulting your doctor. Genetic testing does not replace ongoing clinical care and monitoring.
Exclusion Criteria & Red Flags
- Acute neurological deterioration or signs of status dystonicus โ seek emergency care immediately.
- Inability to cooperate for blood draw or provide informed consent โ the test cannot be performed on minors without legal guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Recent blood transfusion (less than 2 weeks) may affect DNA integrity; defer testing for at least 2 weeks post-transfusion.
Patient FAQ & Clinical Guidance
1. What is the THAP1 (DYT6) genetic test used for in the UAE?
This test detects disease-causing mutations in the THAP1 gene to diagnose DYT6 primary dystoniaโa movement disorder characterized by involuntary twisting and abnormal postures that often begins in childhood or adolescence.
2. How is the test performed and what sample is needed?
The test requires a standard peripheral blood sample (2โ5 mL in an EDTA tube). Our VIP mobile phlebotomy service can collect the sample at your home or workplace under temperature-controlled cold-chain logistics.
3. Does the test require a referral from a UAE neurologist?
Yes, a referral from a DHA-licensed neurologist or clinical geneticist is mandatory, along with a completed genetic counselling session to document the family pedigree.
4. How long does it take to get results, and how will I receive them?
Turnaround time is 3โ4 weeks from sample receipt at the laboratory. Results are delivered via a secure electronic report and discussed during a complimentary telephonic consultation with a clinical geneticist.
UAE Regulatory & Data Privacy Adherence
Compliant with 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.
All genetic data is encrypted, stored in UAE-based servers, and accessed only by authorized clinicians. Patient consent is obtained in accordance with the DHA standards. No data is shared with third parties without explicit written consent.
Clinical & Logistical Metadata
| Test Name | THAP1 (DYT6) Gene Sequencing Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) โ VIP Mobile Phlebotomy & Cold-Chain Home Collection Available |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Coding Region & Splice Sites |
| ICD-10-CM Code | G24.1 (Idiopathic familial dystonia), G24.8 (Other dystonia) |
| LOINC Code | 93973-3 (THAP1 gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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