Test Price
2,800 AED✅ Home Collection Available
GHRHR Gene Growth Hormone Deficiency Genetic Test – Dubai Healthcare City | 2800 AED
Executive Summary & Core Metrics
Definitive Molecular Diagnosis for Isolated Growth Hormone Deficiency Type IB (IGHD1B)
The GHRHR Gene Growth Hormone Deficiency NGS Test is a high-resolution molecular diagnostic assay that leverages next-generation sequencing (NGS) technology to detect pathogenic variants across the entire coding region of the GHRHR gene. This test delivers 99.9% diagnostic sensitivity for isolated growth hormone deficiency type IB and is performed in our ISO 15189:2012 accredited laboratory within Dubai Healthcare City. The service integrates structured pre-test genetic counseling, secure specimen collection through our VIP mobile phlebotomy fleet, and a mandatory post-test telephonic consultation with a DHA-licensed consultant medical geneticist.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2012 Accredited Next-Generation Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Post-Test Telephonic Consultation with a DHA-licensed Consultant Medical Geneticist for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GHRHR gene encodes the growth hormone releasing hormone receptor, a critical G-protein-coupled receptor expressed on pituitary somatotroph cells. Pathogenic variants in GHRHR disrupt the binding of growth hormone releasing hormone, leading to impaired growth hormone synthesis and secretion. This NGS panel interrogates all coding exons and flanking intronic regions of the GHRHR gene at a mean coverage depth of 200×, enabling the detection of single-nucleotide variants, small insertions and deletions, and copy-number alterations. All clinically significant variants are independently validated by Sanger sequencing. This comprehensive approach provides a definitive molecular diagnosis for children and adults presenting with short stature, delayed bone age, and biochemical evidence of growth hormone deficiency, thereby guiding targeted endocrine therapy and informed family planning.
| Feature | Our Test (NGS Panel) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity; detects single-nucleotide variants, indels, and copy-number changes across full gene | High accuracy for known hotspots; may miss novel or deep intronic variants |
| Methodology | NGS with 200× mean coverage, Sanger validation of all pathogenic calls | Bidirectional Sanger sequencing of individual exons |
| Turnaround Time | 3–4 Weeks (ISO-accredited lab) | 4–6 Weeks (often without ISO 15189 oversight) |
Physician Insight & Safety Protocols
A negative result from this NGS panel does not entirely exclude growth hormone deficiency, as other genetic or non-genetic etiologies may be responsible. I strongly advise that all findings be discussed with a pediatric endocrinologist or clinical geneticist to integrate molecular data with auxological, biochemical, and imaging assessments. This test is a powerful diagnostic adjunct but must be interpreted within the full clinical context of the patient.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory: Medication Continuation
⚠ Do not discontinue prescribed growth hormone therapy or any other medication based solely on genetic test results without explicit instruction from your treating endocrinologist.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide a peripheral blood, extracted DNA, or FTA card sample; active systemic infection or severe anemia contraindicating venipuncture; lack of legal guardian consent for minors.
- Red Flags: Seek immediate emergency evaluation if the patient develops sudden severe headache, visual disturbances, or signs of adrenal crisis (hypotension, vomiting, altered consciousness) after receiving test results. These symptoms are not related to the blood draw but require urgent medical assessment.
Patient FAQ & Clinical Guidance
1. What does this test detect and how is it performed?
This NGS test identifies pathogenic mutations in the GHRHR gene that cause isolated growth hormone deficiency type IB. The process begins with a simple blood draw or FTA card sample collected at your home or a clinic. DNA is extracted, enriched for the GHRHR gene region, and sequenced at 200× coverage using next-generation technology. Bioinformatic analysis and manual variant interpretation by board-certified geneticists follow, with all clinically relevant calls confirmed by Sanger sequencing.
2. How long does it take to get results and is the test covered by insurance?
Results are issued within 3 to 4 weeks from the date the sample is received in our Dubai Healthcare City laboratory. Insurance direct billing eligibility can be verified by contacting our billing team via WhatsApp at +971 54 548 8731. The test is fully DHA-licensed and performed in an ISO 15189:2012 accredited facility.
3. Can I arrange a home collection and receive post-test counseling?
Yes. Our VIP mobile phlebotomy service operates across all Emirates from 8 AM to 11 PM daily. A trained phlebotomist visits your residence, collects the specimen under sterile conditions, and transports it via temperature-controlled cold-chain logistics to the laboratory. Every test includes a mandatory telephonic consultation with a DHA-licensed consultant medical geneticist who explains the clinical implications of your result in detail.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is encrypted, access-restricted, and processed exclusively within UAE borders. Patient consent is obtained and recorded prior to sample collection.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Digital health records and telemedicine consultations comply with UAE ICT health data security standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Clinical testing safety protocols and informed consent procedures adhere to this governing medical liability framework.
- DHA Facility License No. 1143: All laboratory operations are conducted under the direct oversight of the Dubai Health Authority at our Dubai Healthcare City facility.
Clinical & Logistical Metadata
| Test Name | GHRHR Gene Growth Hormone Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks from sample receipt in laboratory |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with 200× mean coverage, Sanger confirmation of all pathogenic/likely pathogenic variants |
| ICD-10-CM Code | E23.0 |
| LOINC Code | 81343-6 |
| 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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