Test Price
2,800 AED✅ Home Collection Available
THRA Gene Hypothyroidism Congenital Non-Goitrous Type 6 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Advanced genetic screening for pathogenic variants in the THRA gene enabling definitive molecular diagnosis of congenital non-goitrous hypothyroidism type 6. This test delivers 99.9% diagnostic sensitivity via next-generation sequencing with comprehensive copy number variation analysis, supported by professional genetic counseling and a DHA-licensed mobile phlebotomy service for safe specimen collection across the UAE.
Test Overview & Methodology
This diagnostic assay performs full-gene sequencing of the thyroid hormone receptor alpha (THRA) locus using next-generation sequencing (NGS) with integrated copy number variation (CNV) detection. It identifies pathogenic single-nucleotide variants, small insertions/deletions, and exon-level duplications or deletions responsible for congenital non-goitrous hypothyroidism type 6, enabling precise lifelong clinical management and recurrence risk counselling for families.
| Feature | DNA Labs UAE – THRA NGS Panel | Alternative Diagnostic Approach |
|---|---|---|
| Diagnostic Precision | Full Gene Sequencing (NGS + CNV) | Targeted SNP Genotyping |
| Methodology | NGS with Bioinformatic CNV Pipeline | Sanger Sequencing (Exonic Regions Only) |
| Turnaround Time | 3 to 4 Weeks (Comprehensive Report) | 6 to 8 Weeks |
Physician Insight & Safety Protocols
"The THRA gene analysis provides a definitive molecular anchor for congenital non-goitrous hypothyroidism type 6, yet its full clinical value emerges only when integrated with a thorough endocrine phenotype and family pedigree. A negative result does not exclude every thyroid dysgenesis mechanism, and a positive finding must prompt immediate correlation with growth parameters, neurodevelopmental milestones, and levothyroxine response. We embed every report within a structured genetic counselling session to equip families with actionable, evidence-based guidance."
— Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Safety Advisory – Do Not Alter Prescribed Therapy
Never adjust, pause, or cease thyroid hormone replacement therapy or any other prescribed medication solely on the basis of this genetic result. Any change in drug regimen requires direct consultation with the managing endocrinologist or primary care physician.
Exclusion Criteria & Emergency Red Flags
- Neonates receiving active phototherapy for hyperbilirubinemia require a specialised blood draw protocol; reschedule collection if acute haemolysis is suspected.
- Patients who have received a heterologous blood transfusion within 120 days are excluded from whole-blood DNA extraction — use a buccal swab or FTA card alternative.
- Emergency Red Flag: If the patient (especially an infant) exhibits severe lethargy, respiratory distress, or unresponsiveness, seek immediate emergency medical services rather than prioritising this genetic test.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the THRA gene for congenital hypothyroidism?
The clinical utility lies in confirming a molecular diagnosis for congenital non-goitrous hypothyroidism type 6, which differentiates it from other thyroid dysgenesis forms, guides the precise titration of levothyroxine therapy, and enables accurate genetic counselling regarding the autosomal dominant inheritance pattern and recurrence risk for future pregnancies.
2. What specimen types are accepted for the THRA gene sequencing test?
The laboratory accepts 3 mL of peripheral whole blood in an EDTA tube, a dried blood spot on an FTA card, or high-quality extracted genomic DNA. A complete clinical history and a pre-test genetic counselling session are mandatory to construct a three-generation pedigree and ensure accurate result interpretation.
3. How do I prepare for the home collection service and what legal protections apply?
Our paediatric-trained phlebotomists execute a hospital-grade, cold-chain compliant home visit between 8 AM and 11 PM daily. Pre-test genetic counselling is required in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic data is protected under 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, ensuring absolute confidentiality and non-discrimination.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates under the DHA Facility License Number 1143 and complies fully 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 processed, stored, and transmitted using encrypted systems with strict access controls. No genetic information is shared with third parties without explicit patient consent as mandated by UAE federal law.
Clinical & Logistical Metadata
| Test Name | THRA Gene Hypothyroidism Congenital Non-Goitrous Type 6 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), FTA Card, or Extracted Genomic DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with Copy Number Variation (CNV) Analysis |
| ICD-10-CM Code | E03.1 |
| LOINC Code | 21636-6 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
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All reports reviewed by DHA-Certified physicians