TRHR Gene Hypothyroidism Genetic Test in UAE | 2,800 AED

Name: TRHR Gene Hypothyroidism Genetic Test
Brand: DNA Labs UAE
SKU: DX-LAB-3695
Price: 2800 AED
Availability: InStock

Executive Summary & Core Metrics

Executive Summary: DNA Labs UAE delivers the TRHR gene next-generation sequencing (NGS) test with 99.9% analytical sensitivity for detecting pathogenic variants associated with isolated congenital hypothyroidism. Our DHA-licensed facility (License No. 1143) operates under ISO 9001:2015 certified protocols and provides VIP mobile phlebotomy with temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Each test includes a post-result teleconsultation with Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA ID: 9294403) for comprehensive result interpretation and familial risk assessment. Direct insurance billing verification is accessible via WhatsApp at +971 54 548 8731.

Core metrics include a turnaround time of 3 to 4 weeks, full coding region analysis using the Illumina sequencing platform, and integrated pre-test genetic counselling to construct a detailed pedigree and discuss clinical implications. All testing adheres to UAE federal data protection and healthcare informatics regulations.

Test Overview & Methodology

The TRHR gene NGS test screens for mutations in the thyrotropin-releasing hormone receptor gene, which are linked to isolated congenital hypothyroidism. This advanced DNA-based assay provides definitive molecular confirmation for suspected cases, guiding lifelong management and familial risk assessment. The methodology employs next-generation sequencing on the Illumina platform to analyze the entire coding region and splice sites, detecting single nucleotide variants and small insertions or deletions with high confidence.

Feature	Our Test (NGS)	Closest Alternative (TSH/T4 Panel)
Precision	99.9% analytical sensitivity; detects single nucleotide variants, indels, and splice-site alterations	Functional hormone levels; indirect, influenced by many factors
Methodology	Next-Generation Sequencing (Illumina platform), full coding region coverage	Immunoassay / Chemiluminescence
Turnaround	3 to 4 Weeks	24–48 Hours
Clinical Value	Definitive genetic diagnosis; enables family cascade screening and reproductive planning	Identifies thyroid dysfunction; does not reveal underlying etiology

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics, I view the TRHR gene test as a precise molecular tool that must be correlated with thyroid function studies and a comprehensive family pedigree. A pathogenic variant confirms hereditary hypothyroidism, enabling targeted therapy and cascade screening for at-risk relatives. A negative result does not exclude all genetic causes, and patients must not discontinue prescribed thyroid medication without consulting their physician. Pre-test genetic counselling is strongly recommended to discuss implications for the patient and family.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory – Clinical Safety & Medical Liability

In accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability, patients are advised that this genetic test is intended to complement, not replace, clinical evaluation and routine thyroid function monitoring. Do not alter or cease any prescribed medication without direct consultation with your managing physician. A pre-test genetic counselling session is strongly advised to construct a detailed pedigree and discuss the scope of results, implications for relatives, and the limits of detection inherent to NGS technology. All procedures adhere to the highest standards of clinical safety and informed consent.

Exclusion Criteria & Contraindications

Acute illness: Individuals with acute severe illness or uncontrolled coagulopathy should postpone blood draw until clinically stable.
Neonatal sampling: Buccal swab or FTA card collection is recommended for newborns; venipuncture only under pediatric supervision.
Red flags: Unexplained rapid weight gain, lethargy, cold intolerance, or bradycardia after sample collection warrants immediate medical evaluation as these may indicate untreated hypothyroidism unrelated to the test procedure.
Informed consent: A signed genetic testing consent form must be completed prior to sample collection, acknowledging the scope, limitations, and data privacy terms.

Patient FAQ & Clinical Guidance

1. How accurate is the TRHR gene NGS test for diagnosing congenital hypothyroidism?

This test directly sequences the entire TRHR gene, identifying over 99.9% of disease-associated mutations. When paired with thyroid function tests and clinical evaluation, it provides a definitive molecular diagnosis, enabling targeted treatment and family screening.

2. How should I prepare for the blood collection?

No special preparation is required. You may eat and drink normally. If you are on thyroid medication, continue your regular regimen unless your physician instructs otherwise. Our mobile phlebotomy team will collect a peripheral whole blood sample at your home between 8 AM and 11 PM, maintaining strict cold-chain logistics.

3. How long does it take to receive the genetic test report?

The turnaround time is 3 to 4 weeks from sample receipt at the laboratory. You will receive a comprehensive molecular report followed by a teleconsultation with our Consultant Medical Genetics to interpret the findings and discuss next steps for management and family planning.

4. Can the TRHR gene test be used for family screening or prenatal diagnosis?

Yes. Once a pathogenic familial mutation is identified via our NGS assay, targeted carrier testing can be offered to relatives. Prenatal and preimplantation genetic diagnosis can be arranged after appropriate genetic counselling. Please contact our coordination team at +971 54 548 8731 for detailed guidance.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA Facility License No. 1143) and complies with all applicable UAE federal laws. All genetic and personal data are processed in strict accordance 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. These frameworks ensure that your genomic information is collected, stored, and transmitted with the highest standards of confidentiality, security, and lawful processing. Our facility maintains ISO 9001:2015 certification, and all clinical procedures adhere to the medical liability standards established by Federal Decree-Law No. 4 of 2016.

Clinical & Logistical Metadata

Test Name	TRHR Gene Hypothyroidism Genetic Test
Price (AED)	2,800 AED
Turnaround Time	3 to 4 Weeks
Sample Type / Matrix	Peripheral Whole Blood
Methodology Used	Next-Generation Sequencing (NGS) – Illumina Platform, Full Coding Region
ICD-10-CM Code	E03.1
LOINC Code	81316-2
DHA Facility License & Address	License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE