Test Price
2,800 AED✅ Home Collection Available
TSHB Gene Sequencing for Congenital Nongoitrous Hypothyroidism Type 4 – Definitive Molecular Diagnosis in Dubai
Executive Summary & Core Metrics
- 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 by our DHA-licensed clinical team.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Core Indication: Confirmed diagnosis of congenital nongoitrous hypothyroidism type 4 (OMIM #275100) through high-depth sequencing of the TSHB gene. Enables early levothyroxine intervention, family cascade screening, and informed reproductive counselling under UAE genetic governance frameworks.
Test Overview & Methodology
TSHB Gene Sequencing employs clinical-grade Next-Generation Sequencing (NGS) to interrogate the entire coding region, splice sites, and selected intronic boundaries of the TSHB gene on chromosome 1p13.2. This assay detects pathogenic single-nucleotide variants, small insertions/deletions, and copy-number alterations responsible for isolated TSH deficiency leading to congenital nongoitrous hypothyroidism type 4. The test delivers a permanent molecular diagnosis that supersedes ambiguous biochemical screening results, providing a definitive aetiology for lifelong endocrine management in paediatric and adult populations across the UAE.
| Feature | Our NGS TSHB Test | Standard Newborn TSH Screening |
|---|---|---|
| Method | Next-Generation Sequencing (full gene analysis, >500x depth) | Immunoassay (TSH hormone level) |
| Diagnostic Precision | >99.9% analytical sensitivity for point mutations, indels & CNVs | Functional; may miss central hypothyroidism or mild neonatal onset |
| Turnaround Time | 3–4 Weeks | 24–48 hours (presumptive; requires confirmatory molecular testing) |
| Sample | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card | Heel-prick blood spot (limited DNA yield for molecular confirmation) |
| Clinical Utility | Permanent molecular diagnosis; guides lifelong therapy, family screening & genetic counselling | Initial screening only; incapable of distinguishing genetic subtypes or guiding reproductive planning |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh — Consultant Medical Genetics (DHA Registration ID: 9294403):
"TSHB gene sequencing is the gold-standard method for establishing a definitive molecular diagnosis of congenital nongoitrous hypothyroidism type 4. Unlike biochemical newborn screening, which only reflects circulating hormone levels, this test pinpoints the exact genetic aetiology, enabling precise dosing of levothyroxine, early cognitive preservation, and evidence-based genetic counselling for at-risk family members. A negative result does not exclude other genetic causes of congenital hypothyroidism—such as TSHR, PAX8, or NKX2-1 variants—while a positive finding confirms the need for lifelong endocrine surveillance and informed reproductive options."
Advisory: Medication & Clinical Safety
Critical Pre- and Post-Test Guidance
Patients currently prescribed levothyroxine or any thyroid hormone replacement must not discontinue therapy before, during, or after genetic sampling. Abrupt cessation can precipitate severe hypothyroidism, myxedema coma, or cardiovascular compromise. The TSHB gene test is a diagnostic tool and does not replace routine thyroid function monitoring. All result interpretations must be correlated with clinical examination and biochemical profiles (TSH, free T4, total T3). Any changes to medication should only be made under the direct supervision of the treating endocrinologist.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Active severe systemic illness or haemodynamic instability precluding safe venipuncture
- Minors without documented legal guardian informed consent (per Federal Decree-Law No. 4 of 2016 on Medical Liability)
- Inability to provide valid informed consent or complete pre-test genetic counselling
- This test is not a substitute for acute thyroid function monitoring or emergency metabolic workup
ER Red Flags – Seek Immediate Medical Attention
- Progressive lethargy, hypothermia, bradycardia, or hypotension (suspected myxedema coma)
- Severe respiratory distress or altered consciousness in an infant or child with known hypothyroidism
- Sudden neck swelling with stridor or respiratory compromise
Patient FAQ & Clinical Guidance
1. What is the TSHB gene test and why is it indicated?
Snippet: The TSHB gene test uses NGS to detect disease-causing mutations responsible for congenital nongoitrous hypothyroidism type 4, enabling a definitive molecular diagnosis and targeted treatment planning.
It analyses the full coding sequence, splice junctions, and promoter region of the TSHB gene for single-nucleotide variants, small insertions or deletions, and copy-number alterations. A confirmed pathogenic mutation identifies the root cause of isolated TSH deficiency, directs lifelong levothyroxine therapy, and enables cascade screening of first-degree relatives. The test is particularly indicated for neonates with abnormal newborn TSH screening but no palpable goitre, children with developmental delay and low TSH, and families with a history of congenital hypothyroidism of unknown genetic origin.
2. How is the sample collected and what is the expected turnaround time?
Snippet: A whole blood sample or dried blood spot on FTA card is collected at your home via VIP phlebotomy, with results delivered within 3–4 weeks.
Our DHA-licensed mobile phlebotomy team visits your residence or office between 8 AM and 11 PM, seven days a week. A standard venipuncture (2–5 mL EDTA whole blood) or a simple finger-prick onto an FTA card is performed under sterile conditions. The specimen is transported to our ISO 9001:2015 accredited laboratory in a temperature-controlled cold chain. Following NGS sequencing, bioinformatics analysis, and clinical variant classification, a detailed report is uploaded to our secure patient portal. A telephonic post-test consultation with our genetics team is scheduled to explain the results and answer any questions.
3. Is the TSHB gene sequencing covered by insurance in the UAE?
Snippet: We verify direct billing with major UAE insurers via WhatsApp; forward your policy details to +971 54 548 8731 for a real-time coverage check.
Most comprehensive UAE health insurance plans—including those from Daman, AXA, Sukoon, and Nextcare—cover genetic testing for congenital endocrine disorders when ordered by a licensed specialist. Our patient support team handles pre-authorisation and direct billing wherever possible. For self-paying patients or those with limited coverage, the all-inclusive price is 2,800 AED, covering home phlebotomy, laboratory analysis, clinical interpretation, and the post-test counselling session. Send a photo of your insurance card and Emirates ID via WhatsApp for an immediate eligibility verification.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
All genetic testing services at DNA Labs UAE operate under the regulatory oversight of the Dubai Health Authority (DHA Facility License No. 1143) and comply with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, and storage of genetic and health data with explicit patient consent and data minimisation principles.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — ensuring secure electronic health records, encrypted data transmission, and audited access logs for all genomic information.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — establishing the legal framework for informed consent, pre-test genetic counselling, and professional accountability in diagnostic genetic testing.
Your genetic data remains strictly confidential and is never shared with third parties without your explicit written authorisation. Results are accessible only through our authenticated patient portal with multi-factor authentication.
Clinical & Logistical Metadata
| Test Name | TSHB Gene Sequencing for Congenital Nongoitrous Hypothyroidism Type 4 |
| Price (AED) | 2,800 AED (Inclusive of home phlebotomy, laboratory analysis, and post-test clinical counselling) |
| Turnaround Time | 3–4 Weeks from sample receipt at laboratory |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene coding regions, splice sites, and selected intronic boundaries |
| ICD-10-CM Code | E03.1 (Congenital hypothyroidism without goitre) |
| LOINC Code | 53494-5 (TSHB gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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