Test Price
2,800 AED✅ Home Collection Available
THAP1 (DYT6) Gene Sequencing Test (NGS) in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين THAP1 (DYT6) بتقنية التسلسل الجيني المتقدم (NGS) في الإمارات | 2800 درهم | إرشادات هيئة الصحة بدبي 2026
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📞 Clinical Guidance: Complimentary Post-Test Telephonic Clinical Guidance to Interpret Your Results.
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يقدم هذا الفحص الجيني الدقيق تشخيصًا موثوقًا لمرض خلل التوتر العضلي الوراثي (DYT6) وفق أعلى معايير الجودة والخصوصية الصحية المعتمدة في دولة الإمارات العربية المتحدة.
Overview
The THAP1 (DYT6) NGS test is a targeted next-generation sequencing assay that screens the entire coding region of the THAP1 gene for pathogenic variants linked to early-onset primary dystonia (DYT6). In the UAE, this test is performed under DHA/MOHAP standards, ensuring rapid genetic confirmation for informed clinical management.
| Parameter | Our Test | Closest Alternative (Conventional Sanger) |
|---|---|---|
| Analytical Precision | >99.9% sensitivity & specificity via NGS | ~98% per amplicon; may miss large deletions |
| Methodology | Next-Generation Sequencing (NGS) with full exon coverage | Sanger sequencing (single exon) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA License: 61713011): “A positive THAP1 result confirms a genetic predisposition to DYT6 dystonia, but clinical phenotype can vary. This test must be interpreted alongside neurological evaluation and family history. Genetic counseling before and after testing is mandatory to guide reproductive options and early intervention. Never stop prescribed treatment without your physician’s advice.”
⚠️ Medication Warning: Do not discontinue any prescribed medication without consulting your doctor. Genetic testing does not replace ongoing clinical care.
Exclusion Criteria & Red Flags
- Acute neurological deterioration or signs of status dystonicus – seek emergency care immediately.
- Inability to cooperate for blood draw or informed consent – the test cannot be performed on minors without legal guardian consent per UAE CDS Law 2026.
- Recent blood transfusion (<2 weeks) may affect DNA integrity.
Frequently Asked Questions
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 dystonia—a movement disorder characterized by involuntary twisting and abnormal postures that often begins in childhood or adolescence.
2. كيف يتم تفسير نتائج فحص جين THAP1 (DYT6)؟
يُجرى التسلسل الجيني المتقدم للحمض النووي لتحديد الطفرات المسببة للمرض، ويُعد التقرير الطبي معتمدًا من مستشار وراثي لتحديد الخطر وإجراء التخطيط العلاجي.
3. Does the 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.
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