Test Price
2,800 AED✅ Home Collection Available
TH Gene Segawa Syndrome, Autosomal Recessive Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين TH لمتلازمة سيغاوا المتنحية الجسدية بتقنية التسلسل الجيني الشامل (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
الملخص التنفيذي (Executive Summary)
- ضمان الدقة: حساسية تشخيصية تصل إلى 99.9% من خلال معالجة معتمدة بموجب ISO 9001:2015.
- الخدمات اللوجستية المتميزة: خدمة سحب الدم المنزلي من الدرجة الأولى بنظام السلسلة الباردة المعتمد ومعيار الجودة.
- الاستشارة السريرية: توجيه طبي هاتفي بعد الفحص لتفسير النتائج ومتابعة الحالة.
- التأمين: التحقق المباشر من تغطية التأمين عبر واتساب على الرقم +971 54 548 8731.
Overview | نظرة عامة
The TH Gene Segawa Syndrome, Autosomal Recessive Genetic Test analyzes the entire coding region of the tyrosine hydroxylase (TH) gene using Next-Generation Sequencing to detect pathogenic variants responsible for dopa-responsive dystonia (autosomal recessive Segawa syndrome). This definitive genetic diagnosis guides life-changing levodopa replacement therapy and provides clarity for families affected by early-onset movement disorders.
يقوم اختبار جين TH لمتلازمة سيغاوا المتنحية الجسدية بتسلسل كامل الجين المشفّر للتيروسين هيدروكسيلاز باستخدام تقنية التسلسل الجيني الشامل (NGS) للكشف عن الطفرات المسببة لخلل التوتر المستجيب للدوبا، مما يوجه بدقة العلاج التعويضي بالليفودوبا ويوفر إجابات حاسمة للعائلات.
| Feature | Our Test (NGS TH Gene) | Traditional Sanger Sequencing |
|---|---|---|
| Diagnostic Yield | 99.9% sensitivity for single nucleotide variants, indels, and copy number changes | ~95% for point mutations; limited CNV detection |
| Method | Targeted NGS with full gene coverage, bioinformatics pipeline (ISO 9001:2015 certified) | Sanger-based bidirectional sequencing of exons |
| Turnaround | 3–4 Weeks | 6–8 Weeks (multi-step) |
| Clinical Utility | Comprehensive detection of all variant types; includes genetic counselling | Limited to known hotspots; may miss deep intronic or regulatory variants |
Physician Insight & Safety Protocol | رؤية الطبيب وبروتوكول السلامة
“As a neurologist, I know how distressing an unexplained movement disorder in a child can be. This NGS test on the TH gene can confirm Segawa syndrome and unlock the remarkable benefits of levodopa therapy. However, a genetic diagnosis must always be correlated with the full clinical picture, family history, and neurological examination. I strongly advise discussing the result with your specialist before making any treatment decisions.”
Dr. PRABHAKAR REDDY | DHA License: 61713011 | Neurologist & Clinical Advisor
⚠ Medication Warning
Do not discontinue or adjust any prescribed medication, especially levodopa or anti-dystonic drugs, without direct consultation with your treating physician. Abrupt changes can trigger severe dystonic crises or respiratory compromise.
Patient Safety: Exclusion Criteria & Emergency Red Flags
- Acute febrile illness or active infection (postpone collection until recovery).
- Inability to provide a viable blood sample (e.g., severe anaemia with difficult venous access) – discuss alternative DNA source (FTA card) with our nurse.
- Lack of informed consent or a completed genetic counselling session with pedigree drawing.
🚨 Seek Emergency Care if:
- Sudden worsening of dystonia leading to inability to breathe or swallow.
- Uncontrolled muscle contractions causing falls, injury, or loss of consciousness.
- Any suspicion of status dystonicus (a dystonic emergency).
Patient FAQ & Clinical Guidance | الأسئلة الشائعة والإرشادات السريرية
What is the purpose of TH gene NGS testing for Segawa syndrome?
Snippet: TH gene NGS testing identifies mutations in the tyrosine hydroxylase gene responsible for autosomal recessive Segawa syndrome, confirming dopa-responsive dystonia.
This comprehensive NGS test examines every exon and flanking intronic region of the TH gene, detecting single nucleotide variants, small insertions/deletions, and copy number changes. A positive result confirms the molecular diagnosis of autosomal recessive Segawa syndrome (DYT5 dystonia), enabling early initiation of levodopa, which often dramatically improves motor symptoms.
الإجابة: يحدد فحص جين TH بتقنية NGS الطفرات في جين التيروسين هيدروكسيلاز المسؤولة عن متلازمة سيغاوا المتنحية الجسدية، مما يؤكد تشخيص خلل التوتر المستجيب للدوبا ويوجه بدقة العلاج التعويضي.
How is the sample collected and what is the turnaround time?
Snippet: Blood, extracted DNA, or an FTA card sample is collected via a home phlebotomy service and results are delivered in 3 to 4 weeks.
We offer a VIP mobile phlebotomy service, dispatched to your home, office, or hospital between 8 AM and 11 PM, using a cold-chain transport system compliant with ISO 9001:2015 standards. You can provide a whole blood sample, pre-extracted DNA, or a single drop of blood on an FTA card. The NGS analysis, bioinformatics pipeline, and clinical interpretation require 3–4 weeks from receipt of an adequate sample.
الإجابة: يتم سحب عينة دم أو DNA مستخلص أو بقعة دم على بطاقة FTA عبر خدمة سحب منزلي متميزة، وتصدر النتائج خلال 3 إلى 4 أسابيع باستخدام تقنية NGS المتقدمة.
Is the test covered by insurance and what are the pre‑test requirements?
Snippet: A pre‑test genetic counselling session with a pedigree chart is required, and direct insurance billing verification is available via WhatsApp +971 54 548 8731.
Before sample collection, the patient or family must complete a clinical history review and attend a genetic counselling session where a pedigree chart of family members affected by Segawa syndrome is drawn. This step ensures the most accurate interpretation and complies with Federal Decree-Law No. 41 of 2024 and CDS Law 2026 for minors. To verify your insurance coverage, send a photo of your Emirates ID and insurance card to our dedicated WhatsApp line; our team performs direct billing verification instantly.
الإجابة: يُشترط حضور جلسة استشارة وراثية مع رسم شجرة العائلة قبل الفحص، ويتوفر التحقق المباشر من تغطية التأمين عبر واتساب على الرقم +971 54 548 8731.
✔ ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) · UAE DHA & MOHAP compliant · Federal Decree-Law No. 41 of 2024 & PDPL Adherent · Home collection & telephonic post‑ guidance included.
For insurance billing, sample logistics or to speak with a genetic counsellor, contact our Patient Support Team on WhatsApp: +971 54 548 8731.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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