Test Price
2,800 AED✅ Home Collection Available
HSD17B3 Gene Pseudohermaphroditism with Gynecomastia Genetic Test in UAE
Executive Summary & Core Metrics
- ✓ Diagnostic Accuracy 99.9% Sensitivity – ISO 9001:2015 certified NGS, processed through CAP-accredited genetic laboratory facility. Full coverage of all coding exons and splice junctions of the HSD17B3 gene, achieving clinical-grade variant detection (LC‑MS/MS confirmatory follow‑up when applicable).
- ✓ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – ISO‑certified cold‑chain phlebotomy with temperature‑monitored transport (2‑8°C). Available daily 8 AM‑11 PM across all Emirates including Dubai, Abu Dhabi, Sharjah. VIP mobile service included.
- ✓ Post‑Test Clinical Guidance – Complimentary telephonic consultation with a DHA‑licensed clinical genetic counsellor to explain results and implications for family screening.
- ✓ Direct Insurance Billing – Verify your policy via WhatsApp at +971 54 548 8731 for seamless direct billing to major UAE insurers.
Test Overview & Methodology
The HSD17B3 gene (17‑beta‑hydroxysteroid dehydrogenase 3) is critical for testosterone biosynthesis; pathogenic variants lead to 46,XY disorder of sex development manifesting as pseudohermaphroditism with gynecomastia. Our Next‑Generation Sequencing test interrogates the entire coding region and adjacent intronic boundaries, delivering a 99.9% diagnostic sensitivity compared to conventional single‑exon Sanger screening.
| Parameter | Our NGS Test (HSD17B3) | Alternative (Sanger Sequencing / Panel) |
|---|---|---|
| Method | NGS (Illumina NovaSeq, 150× mean coverage) | Sanger single‑exon or limited gene panel |
| Coverage | Full gene (9 exons) ±20bp intronic boundary | Only selected exons; may miss deep intronic variants |
| Variant Detection | SNVs, indels, copy number variants (CNV) by NGS with MLPA confirmation | SNVs only; large deletions/duplications missed |
| Clinical Sensitivity | >99.9% (all reported mutation types) | ~85% (limited to point mutations) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks (often batched) |
| Price (UAE) | 2800 AED | 2,200–2,500 AED (additional charges for CNV analysis) |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics with extensive experience in inherited endocrine disorders, I confirm that the HSD17B3 gene sequencing test provides critical information for diagnosing 46,XY disorders of sex development. However, genetic results must be interpreted in concert with biochemical profiling, imaging studies, and complete family pedigree analysis. A negative result does not exclude other disorders of sex development; further testing may be warranted based on clinical suspicion. Our team ensures comprehensive pre- and post-test counseling to support patients and families."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
Do not discontinue or modify any prescribed medication (especially hormonal therapies, testosterone supplements, or anti‑androgens) without consulting your physician. Abrupt cessation may lead to serious endocrine destabilisation.
Patient Safety – Exclusion Criteria & Emergency Red Flags
- Exclusion: Active blood or bone marrow cancer within the last 3 months (may affect germline DNA quality).
- Exclusion: Recent allogeneic blood transfusion (<4 weeks) – may introduce donor DNA.
- Exclusion: Current pregnancy (sample type may require dedicated maternal contamination check).
- Red Flag 🚨: Rapidly enlarging unilateral testicular mass with gynecomastia – immediate urological evaluation required; genetic testing does not replace urgent imaging.
- Red Flag 🚨: Severe electrolyte imbalance (hyponatremia/hyperkalemia) in a suspected disorder of sex development – refer to emergency endocrinology.
Patient FAQ & Clinical Guidance
1. What does the HSD17B3 genetic test diagnose?
This test identifies disease‑causing mutations in the HSD17B3 gene responsible for 17‑beta‑hydroxysteroid dehydrogenase 3 deficiency, a condition that leads to pseudohermaphroditism and gynecomastia in 46,XY individuals. It helps confirm the genetic aetiology and guides endocrine and surgical management.
2. How is the sample collected and what preparation is needed?
A simple blood draw (3‑5 mL in EDTA tube) or a single drop of blood on an FTA card is collected by our DHA‑licensed phlebotomist at your home. You must attend a pre‑test genetic counselling session to document your pedigree and clinical history; no fasting is required but please avoid aspirin 48 hours before collection.
3. Can this be used for prenatal diagnosis or carrier screening?
Yes, after identification of a familial mutation, targeted testing can be offered for prenatal diagnosis (chorionic villus sampling/amniocentesis) or carrier screening of at‑risk relatives. Our genetic counsellor will explain implications, limitations, and UAE legal consent requirements for minors under applicable regulations.
4. What is the turnaround time for results?
Results are typically available within 3 to 4 weeks from sample receipt. This allows for full NGS sequencing, bioinformatic analysis, variant interpretation, and clinical validation. Urgent cases may be expedited upon request.
5. Will my insurance cover the cost of this test?
DNA Labs UAE works with major UAE insurers for direct billing. Contact us via WhatsApp at +971 54 548 8731 to verify your policy coverage. Out‑of‑pocket cost is 2800 AED if insurance does not apply.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with UAE federal laws governing health data and personal privacy. All genetic test results are processed under:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring secure collection, storage, and transfer of personal health information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing electronic health records and telemedicine practices.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing clinical safety standards and patient consent protocols for diagnostic procedures.
Laboratory Accreditation: ISO 9001:2015 Certified | Cert: INT/EGQ/2509DA/3139 | DHA Facility License No: 1143
Clinical & Logistical Metadata
| Test Name | HSD17B3 Gene Pseudohermaphroditism with Gynecomastia Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Blood (EDTA) or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina NovaSeq |
| ICD-10-CM Code | E25.8 |
| LOINC Code | 94219-6 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Lab: DNA Labs UAE |
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