Test Price
2,800 AED✅ Home Collection Available
TH Gene Segawa Syndrome, Autosomal Recessive Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Sensitivity: 99.9% for single nucleotide variants, indels, and copy number changes via Next‑Generation Sequencing (NGS).
- Accreditation: ISO 9001:2015 certified laboratory (Cert: INT/EGQ/2509DA/3139) and Dubai Health Authority (DHA) licensed.
- Premium Logistics: VIP mobile phlebotomy with temperature‑controlled cold‑chain home collection available daily 8 AM to 11 PM.
- Clinical Support: Telephonic post‑test genetic counselling included with every report.
- Insurance: Direct insurance billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TH Gene Segawa Syndrome Autosomal Recessive Genetic Test analyzes the entire coding region and flanking intronic sequences of the tyrosine hydroxylase (TH) gene using targeted Next‑Generation Sequencing (NGS). This comprehensive molecular analysis detects all pathogenic and likely pathogenic variants responsible for dopa‑responsive dystonia (autosomal recessive Segawa syndrome, DYT5a). A definitive genetic diagnosis enables early initiation of levodopa therapy, which can dramatically improve motor symptoms and quality of life.
| Feature | Our NGS TH Gene Test | Traditional Sanger Sequencing |
|---|---|---|
| Diagnostic Yield | 99.9% sensitivity for SNVs, indels, and CNVs | ~95% for point mutations; limited CNV detection |
| Method | Targeted NGS with full gene coverage + bioinformatics (ISO 9001:2015) | Bidirectional Sanger sequencing of exons |
| Turnaround | 3–4 weeks | 6–8 weeks |
| Clinical Utility | Comprehensive variant detection + genetic counselling included | Limited to known hotspots; may miss deep intronic or regulatory variants |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I see the profound impact that a precise molecular diagnosis can have on families facing unexplained early‑onset dystonia. An NGS‑based analysis of the TH gene provides a highly sensitive and specific confirmation of Segawa syndrome, guiding life‑changing treatment with levodopa. However, it is essential that results are interpreted in the context of the full clinical history, neurological examination, and family pedigree. I strongly recommend discussing this report with your treating specialist before initiating or altering any therapy.”
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Safety Advisory
⚠ Medication Advisory
Do not discontinue or adjust levodopa, carbidopa, or any anti‑dystonic medication without direct consultation with your treating physician. Abrupt cessation may precipitate a severe dystonic crisis, respiratory compromise, or neuroleptic malignant‑like syndrome. Always consult your neurologist before making changes.
Exclusion Criteria & Emergency Red Flags
- Acute febrile illness or active infection: postpone blood collection until fully recovered.
- Severe anaemia or difficult venous access: discuss alternative DNA source (FTA card or pre‑extracted DNA) with our genetic counsellor.
- Informed consent & pre‑test counselling: a completed genetic counselling session with pedigree drawing is mandatory before testing.
🚨 Seek Emergency Care If:
- Sudden worsening of dystonia causing difficulty breathing or swallowing.
- Uncontrolled muscle contractions leading to falls, injury, or loss of consciousness.
- Suspicion of status dystonicus (life‑threatening dystonic emergency).
Patient FAQ & Clinical Guidance
1. What is the purpose of TH gene NGS testing for Segawa syndrome?
Snippet: This NGS test identifies pathogenic mutations in the TH gene, confirming autosomal recessive Segawa syndrome (dopa‑responsive dystonia) with high accuracy.
The test examines every exon and flanking intronic region of the TH gene. It detects single nucleotide variants, small insertions/deletions, and copy number changes. A positive molecular diagnosis enables early initiation of levodopa therapy, which often dramatically improves motor symptoms and long‑term outcomes.
2. How is the sample collected and what is the turnaround time?
Snippet: A blood sample, pre‑extracted DNA, or FTA card is collected via our VIP home phlebotomy service; results are delivered in 3 to 4 weeks.
We offer mobile phlebotomy to your home, office, or hospital between 8 AM and 11 PM using a cold‑chain transport system. You may provide whole blood, extracted DNA, or a single drop on an FTA card. The NGS analysis, bioinformatics, and clinical interpretation take 3–4 weeks from receipt of an adequate specimen.
3. Is the test covered by insurance and what are the pre‑test requirements?
Snippet: A pre‑test genetic counselling session with pedigree drawing is required; insurance 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 is drawn. This ensures accurate interpretation and compliance with UAE privacy and health regulations. To verify insurance coverage, send a photo of your Emirates ID and insurance card to our dedicated WhatsApp line; our team performs direct billing verification instantly.
UAE Regulatory & Data Privacy Adherence
- Data Protection: Compliant with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability & Consent: All clinical procedures and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and fully licensed by the Dubai Health Authority (DHA).
Clinical & Logistical Metadata
| Test Name | TH Gene Segawa Syndrome, Autosomal Recessive Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), pre‑extracted DNA, or FTA card; VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Targeted Next‑Generation Sequencing (NGS) of the entire TH gene coding region and flanking intronic sequences with bioinformatics variant analysis |
| ICD-10-CM Code | G24.1 (Idiopathic familial dystonia – Dopa‑responsive dystonia / Segawa syndrome) |
| LOINC Code | 81309-1 (Tyrosine hydroxylase gene sequencing) |
| 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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