Test Price
2,800 AED✅ Home Collection Available
HSD17B3 Gene Genetic Test for Pseudohermaphroditism with Gynecomastia | UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Integrity Guarantee & Premium Service Offering
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- 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 by DHA-licensed genetic specialists for result interpretation and next-step counselling.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 (response within 2 hours).
- Price: 2,800 AED – All-inclusive of collection, sequencing, interpretation, and report.
- Turnaround Time: 3 – 4 Weeks from sample receipt.
Test Overview & Methodology
The HSD17B3 gene encodes 17β-hydroxysteroid dehydrogenase type 3, an enzyme essential for testosterone biosynthesis within the Leydig cells of the testes. Pathogenic variants in this gene disrupt the conversion of androstenedione to testosterone, leading to 46,XY disorder of sex development (DSD) that classically manifests as pseudohermaphroditism with gynecomastia at puberty. This next-generation sequencing (NGS) assay interrogates the entire coding region plus intron-exon boundaries of the HSD17B3 gene, enabling definitive molecular diagnosis in 3 to 4 weeks. The methodology achieves >99.9% sensitivity for single nucleotide variants, small insertions and deletions, and copy number alterations.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – full gene analysis including intron-exon boundaries | Sanger sequencing – targeted exon-by-exon analysis |
| Detection Rate | >99.9% for single nucleotide variants, small indels, and copy number changes | ~95% (limited to known hotspots, lower sensitivity for mosaic variants) |
| Turnaround Time | 3 – 4 Weeks | 4 – 6 Weeks |
| Sample Types | Whole blood (2 mL EDTA), extracted DNA, or one drop on FTA card | Typically whole blood only; requires higher DNA input |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: "A molecular diagnosis of HSD17B3 deficiency establishes the precise aetiology of 46,XY DSD and directly informs gender identity counselling, hormone replacement strategy, and long-term gonadal surveillance. The NGS panel provides comprehensive coverage of the gene, including deep intronic regions that Sanger sequencing may miss. I underscore that any positive finding should be correlated with serum steroid profiling and imaging studies to complete the clinical picture. A negative result does not exclude all genetic causes of 46,XY DSD; additional genetic work-up targeting other genes in the testosterone biosynthesis cascade should be discussed with the referring specialist."
Safety Exclusion Criteria & Emergency Indicators
- Inability to provide informed consent (minors require guardian consent per UAE Federal Law No. 2 of 2019).
- Active severe haemodynamic instability or acute psychiatric crisis; home collection will be rescheduled with medical clearance.
- Current use of anticoagulants (blood draw only after INR verification if on warfarin therapy).
- Seek emergency care immediately if you develop sudden severe testicular or abdominal pain, heavy bleeding, or signs of adrenal crisis (vomiting, confusion) while awaiting results.
Patient FAQ & Clinical Guidance
1. What does the HSD17B3 gene test diagnose, and why is it ordered?
Concise Answer: This NGS test detects pathogenic variants in the HSD17B3 gene that cause 46,XY disorder of sex development, presenting as pseudohermaphroditism with gynecomastia. It provides a definitive molecular diagnosis to guide gender assignment, hormone therapy, and surgical planning.
The test analyses the entire HSD17B3 coding region plus intron-exon boundaries. Clinicians order it when physical examination and hormonal profiles suggest impaired testosterone conversion, typically in undervirilised males or those with breast development at puberty. The result enables precise genetic counselling, targeted endocrine therapy, and coordination with a multidisciplinary DSD team.
2. How is home sample collection arranged, and what are the critical pre-requirements?
Concise Answer: We offer VIP mobile phlebotomy from 8 AM to 11 PM across all UAE emirates; a virtual genetic counselling session to document your family pedigree is mandatory before the blood draw.
Once you confirm your booking via WhatsApp at +971 54 548 8731, a certified phlebotomist arrives with a temperature-controlled transport kit. You must complete a clinical history form and a 20-minute virtual genetic counselling session to map affected relatives. Accepted sample types: whole blood (2 mL EDTA), extracted DNA, or a single drop on an FTA card. No fasting is required, but you must inform us of any anticoagulant medication. Results are securely delivered through our encrypted patient portal.
3. What happens after I receive my results, and how will they affect my medical follow-up?
Concise Answer: A positive HSD17B3 mutation report triggers referral to a multidisciplinary DSD team for personalised endocrine therapy, possible gender-confirming surgery, and lifelong surveillance for gonadal tumour risk.
Results are delivered through a secure portal with a telephonic consultation by a DHA-licensed geneticist. If a mutation is found, the report includes an ACMG/ClinGen-curated interpretation and specific management recommendations aligned with international DSD guidelines. Your physician will coordinate with paediatric or adult endocrinology, urology or gynaecology, and psychology services. Carrier testing for at-risk family members can also be arranged through our genetics department.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Compliance Framework
This service operates in full compliance 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 stored and processed within sovereign UAE servers with encryption at rest and in transit.
Clinical testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring every patient encounter is documented, consented, and auditable.
ISO 9001:2015 certification guarantees quality management across the entire testing pathway, from sample reception through sequencing to clinical interpretation. The laboratory participates in external quality assessment schemes for molecular genetics.
Clinical & Logistical Metadata
| Test Name | HSD17B3 Gene Sequencing (NGS) for Pseudohermaphroditism with Gynecomastia |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole blood (2 mL EDTA), extracted DNA, or FTA card specimen |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coding region plus intron-exon boundaries |
| ICD-10-CM Code | Q56.4 |
| LOINC Code | 21669-6 |
| 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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