Test Price
2,800 AED✅ Home Collection Available
TSHR Gene Mutation Analysis for Congenital Nongoitrous Hypothyroidism Type 1 (NGS) in UAE | 2,800 AED
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9 percent diagnostic sensitivity via ISO 9001:2015 certified Next-Generation Sequencing (NGS) processing, aligned with UAE genomic standards. This genetic assay detects pathogenic variants in the thyroid-stimulating hormone receptor gene, enabling definitive diagnosis of congenital nongoitrous hypothyroidism type 1.
- Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary telephonic post-test clinical correlation with Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA Registration ID: 9294403) to interpret your TSHR gene findings.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 – instant eligibility check for leading UAE networks.
Test Overview & Methodology
The TSHR gene encodes the thyroid-stimulating hormone receptor; pathogenic variants cause congenital nongoitrous hypothyroidism type 1 (CHNG1), a condition present from birth that impairs thyroid hormone production without gland enlargement. This NGS-based assay examines all coding exons and splice junctions, offering a definitive molecular diagnosis for affected infants, family risk assessment, and reproductive planning.
| Feature | Our Test TSHR NGS | Closest Alternative Sanger Sequencing |
|---|---|---|
| Precision | Single-nucleotide resolution across entire gene | Limited to targeted regions; more cost-effective for familial mutation |
| Method | NGS – ISO 9001:2015 certified | Sanger sequencing – lower throughput |
| Turnaround Time | 21 to 28 Business Days | 14 to 21 Business Days |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics licensed by the Dubai Health Authority, I emphasize that a genetic test result represents one component of a comprehensive clinical evaluation. A positive TSHR mutation must be correlated with thyroid function tests and newborn screening outcomes. No single laboratory report replaces a thorough physical examination and detailed family history assessment.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Clinical Guidance
Do not discontinue any prescribed thyroid hormone replacement therapy or other medication without consulting your supervising physician. This test provides diagnostic information and does not replace therapeutic decision-making. Always correlate genetic findings with clinical presentation and biochemical markers.
Exclusion Criteria and Emergency Red Flags
- Exclusion: Inability to provide a blood or DNA sample safely due to severe coagulopathy or hemodynamic instability – contact our clinical team for saliva-based alternatives.
- Exclusion: Active febrile illness or acute infection requiring immediate medical attention – testing should be deferred until clinically stable.
- Red Flag: Sudden onset of severe respiratory distress, altered consciousness, or cardiac symptoms in a newborn – proceed to the nearest emergency department immediately; genetic testing is not a priority in such scenarios.
- Red Flag: Any suspicion of thyroid storm characterized by hyperpyrexia, tachycardia, or agitation – requires emergency intervention regardless of genetic status.
Patient FAQ & Clinical Guidance
1. What is the TSHR gene test and why is it important?
Snippet: The TSHR gene NGS test detects disease-causing mutations in the thyroid-stimulating hormone receptor gene responsible for congenital nongoitrous hypothyroidism type 1, enabling early diagnosis and lifelong management planning. Affected infants identified early can receive timely thyroid hormone replacement to prevent developmental delay.
2. How is the sample collected for this genetic test?
Snippet: A single blood draw, a drop of blood on an FTA card, or previously extracted DNA is accepted. Our VIP mobile phlebotomy team visits your home with full temperature-controlled cold-chain compliance for specimen integrity.
3. What does a positive result mean for my child and family?
Snippet: A positive result confirms a genetic diagnosis of TSHR-related congenital hypothyroidism, prompts immediate thyroid hormone monitoring, and flags the need for genetic counselling for parents and siblings to assess recurrence risk in future pregnancies.
4. How long does it take to receive results?
Snippet: The standard turnaround time for TSHR NGS analysis is 21 to 28 business days from sample receipt, allowing for comprehensive sequencing data analysis and variant interpretation by our clinical genetics team.
5. Will insurance cover the cost of this test?
Snippet: Coverage varies by insurance provider and policy. Our team can verify direct billing eligibility via WhatsApp at +971 54 548 8731. We recommend contacting your insurer to confirm genetic testing benefits before the sample is collected.
UAE Regulatory & Data Privacy Adherence
Data Protection and Health Information Governance: DNA Labs UAE strictly complies 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 encrypted, access-controlled, and processed solely for diagnostic purposes with explicit patient consent aligned with Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic information remains confidential and is never shared without your written authorization.
Clinical & Logistical Metadata
| Test Name | TSHR Gene Mutation Analysis for Congenital Nongoitrous Hypothyroidism Type 1 (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 Business Days |
| Sample Type / Matrix | Whole Blood, Dried Blood Spot (FTA Card), or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) – ISO 9001:2015 Certified |
| ICD-10-CM Code | E03.1 |
| LOINC Code | 21647-7 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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