Test Price
2,800 AED✅ Home Collection Available
TPO Gene Thyroid Dyshormonogenesis Type 2A Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
The TPO gene NGS test detects pathogenic variants causing thyroid dyshormonogenesis type 2A, enabling definitive molecular diagnosis, carrier screening, and guided clinical management for congenital hypothyroidism. The assay delivers 99.9% diagnostic sensitivity through ISO-accredited processing at DNA Labs UAE, a DHA-licensed facility.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This molecular diagnostic assay employs next-generation sequencing (NGS) to interrogate the TPO gene for disease-causing variants associated with thyroid dyshormonogenesis type 2A. The test provides clinicians with a precise genetic etiology for congenital hypothyroidism, enables carrier testing for at-risk family members, and informs reproductive planning. NGS technology simultaneously analyzes multiple exonic regions with high depth of coverage, achieving analytical sensitivity exceeding 99.9% for single-nucleotide variants and small insertions or deletions.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% analytical sensitivity | ~98% sensitivity, limited variant detection |
| Methodology | NGS (Next Generation Sequencing) | Sanger Sequencing |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
"In my practice, I reinforce that TPO gene sequencing provides a critical pillar for understanding congenital hypothyroidism, yet results must always be interpreted alongside thyroid function tests, imaging, and clinical presentation. Genetic findings alone do not dictate treatment; a comprehensive evaluation ensures the safest and most effective management for each patient and family."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Safety Advisory
Medication Continuation Warning
Do not discontinue prescribed thyroid hormone replacement therapy without consulting your endocrinologist. Genetic test results complement but do not replace ongoing clinical management. Abrupt cessation of levothyroxine or other thyroid medications may precipitate severe hypothyroid crisis, particularly in neonates, infants, and patients with pre-existing cardiovascular compromise.
Exclusion Criteria & Emergency Red Flags
- Inability to provide informed consent or lack of legal guardian (for minors).
- Contraindications to venipuncture (e.g., severe coagulopathy).
- Severe intercurrent illness that may compromise sample integrity.
- ER Red Flags: Signs of myxedema coma (hypothermia, bradycardia, altered consciousness) or severe congenital hypothyroidism (poor feeding, respiratory distress, umbilical hernia) — seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the purpose of the TPO gene test, and who should consider it?
This test detects pathogenic variants in the TPO gene responsible for thyroid dyshormonogenesis type 2A. It is indicated for infants with congenital hypothyroidism of unknown etiology, children with persistent goiter and elevated TSH, and adults with a family history of dyshormonogenetic goiter. Carrier testing is offered to at-risk relatives for reproductive counseling.
2. How is the sample collected, and is home collection available in the UAE?
The laboratory accepts a standard whole blood draw, a single dried blood spot on an FTA card, or purified genomic DNA. For patients across Dubai and the Northern Emirates, VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM. Hospital-based collection is also supported at our DHA-licensed facility in Dubai Healthcare City.
3. What does a positive result mean, and what are the next steps?
A positive result indicates the presence of one or more pathogenic or likely pathogenic variants in the TPO gene. Confirmatory biochemical correlation with thyroid function tests (TSH, free T4, thyroglobulin) is recommended. Affected individuals should receive genetic counseling and be referred to a pediatric or adult endocrinologist for initiation or adjustment of thyroid hormone replacement therapy.
4. Can this test be performed during pregnancy or on a newborn?
Yes, the test can be ordered for neonates identified through the UAE national newborn screening program who exhibit elevated TSH or abnormal thyroid profiles. For prenatal scenarios, chorionic villus sampling or amniocentesis may be considered after thorough genetic counseling. All testing adheres to Federal Decree-Law No. 4 of 2016 on Medical Liability regarding informed consent and patient safety.
5. How long does it take to receive results, and how are they delivered?
The turnaround time is 3 to 4 weeks from sample receipt. Results are delivered via secure electronic health record portal, encrypted email, or hard copy upon request. A telephonic post-test consultation with a genetic counselor or referring physician is included to explain findings and recommend next steps.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the UAE federal legal framework governing genetic data and health information. All personal and genetic data are processed under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), which mandates lawful collection, purpose limitation, data minimization, and individual rights including access, rectification, and erasure. Health information systems adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic storage, encrypted transmission, and audit trails for all genetic test results. Clinical safety and patient consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability, which requires explicit informed consent prior to genetic testing and mandates clear communication of results and their implications. Our DHA Facility License Number 1143 and ISO 9001:2015 certification reflect our commitment to quality, security, and regulatory excellence.
Clinical & Logistical Metadata
| Test Name | TPO Gene Thyroid Dyshormonogenesis Type 2A Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Dried Blood Spot (FTA Card), or Extracted Genomic DNA |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | E03.1, E07.1 |
| LOINC Code | 81260-1 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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