Test Price
2,800 AED✅ Home Collection Available
HSD17B3 Gene Genetic Test for Pseudohermaphroditism with Gynecomastia | UAE | 2800 AED | 2026 DHA Guidelines
تحليل الجين HSD17B3 لتحديد الجنس الكاذب مع التثدي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary & Clinical Integrity Guarantee
ملخص تنفيذي: تحليل جيني متقدم بتقنية التسلسل من الجيل التالي (NGS) للكشف عن طفرات جين HSD17B3 المسببة لاضطراب التطور الجنسي 46,XY (الجنس الكاذب الذكري مع التثدي). نضمن دقة تشخيصية بنسبة 99.9% عبر معامل حاصلة على شهادة ISO، مع خدمة سحب منزلي متميزة واستشارة ما بعد الفحص.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: Paid Hospital‑Grade Home Collection via ISO Certified Cold‑Chain Home Collection & VIP Mobile Phlebotomy (8 AM – 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).
Overview: Precision NGS for Disorder of Sex Development (DSD)
The HSD17B3 gene encodes 17β‑hydroxysteroid dehydrogenase type 3, essential for testosterone biosynthesis. Pathogenic variants cause 46,XY disorder of sex development, presenting as pseudohermaphroditism with gynecomastia. This NGS test sequences the entire coding region, enabling definitive molecular diagnosis in 3–4 weeks. يُشخّص الاختبار الطفرات المسببة لاضطراب التطور الجنسي بدقة عالية.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full gene analysis | Sanger sequencing – targeted exon‑by‑exon |
| Detection Rate | >99.9% for single nucleotide variants, small indels, and copy number changes | ~95% (limited to known hotspots) |
| Turnaround Time | 3 – 4 Weeks | 4 – 6 Weeks |
| Sample Types | Whole blood, extracted DNA, or one drop on FTA card | Typically whole blood only |
Physician Insight & Clinical Safety Protocol
Dr. PRABHAKAR REDDY (DHA License: 61713011): "An HSD17B3 result must be interpreted in the context of full clinical, hormonal, and imaging findings. A positive result confirms the molecular aetiology and guides gender assignment, hormone replacement, and surgical planning. A negative result does not rule out other causes of 46,XY DSD; further endocrine and genetic work‑up is often necessary. I strongly advise post‑test counselling to align the genetic data with your unique clinical picture."
⚠️ Medication Warning
Do not discontinue any prescribed medication (including hormones, steroids, or anti‑androgens) without explicit instruction from your treating physician. Abrupt changes can lead to serious metabolic and psychological effects.
Safety Exclusion Criteria & ER Red Flags
- Inability to provide consent (minors require court‑appointed guardian consent per UAE CDS Law 2026).
- Active severe haemodynamic instability or acute psychiatric crisis; home collection will be rescheduled.
- Current use of anticoagulants (blood draw only after INR check if on warfarin).
- Seek emergency care immediately if you develop sudden severe testicular/abdominal pain, heavy bleeding, or signs of adrenal crisis (vomiting, confusion) while awaiting results.
Frequently Asked Questions (Bilingual)
1. What does the HSD17B3 gene test diagnose, and why is it ordered?
Snippet‑Grade Answer: The HSD17B3 NGS test detects mutations causing 46,XY disorder of sex development, presenting as pseudohermaphroditism with gynecomastia, aiding definitive molecular diagnosis and management decisions.
The test analyses the entire HSD17B3 gene to identify pathogenic variants. Clinicians order it when physical examination and hormonal profiles suggest impaired testosterone conversion, typically in undervirilised males or those with breast development at puberty, enabling precise genetic counselling, gender assignment, and targeted endocrine therapy.
١. ماذا يكشف تحليل جين HSD17B3 وما دواعي إجرائه؟
يكشف الاختبار الطفرات المسببة لاضطراب التطور الجنسي 46,XY (الجنس الكاذب مع التثدي) موفراً تشخيصاً جزيئياً دقيقاً لتوجيه العلاج الهرموني والجراحي وتحديد الجنس.
2. How is home sample collection arranged, and what are the critical pre‑ requirements?
Snippet‑Grade Answer: We offer VIP home phlebotomy 8 AM–11 PM across the UAE; a 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. Samples accepted: 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.
٢. كيف تتم خدمة السحب المنزلي وما متطلبات ما قبل الفحص؟
نوفر خدمة سحب الدم المنزلي الممتازة من 8 صباحاً حتى 11 مساءً، ويشترط جلسة استشارة وراثية لتوثيق شجرة العائلة قبل موعد السحب.
3. What happens after I receive my results — how will they affect my medical follow‑up?
Snippet‑Grade Answer: A positive HSD17B3 mutation report triggers referral to a multidisciplinary DSD team for personalised endocrine therapy, possible gender‑confirming surgery, and lifelong surveillance.
Results are delivered through a secure portal with a telephonic consultation by a DHA‑licensed geneticist. If a mutation is found, the report includes a ClinGen‑curated interpretation and specific management recommendations aligned with the 2026 UAE Genetic Services Guideline. Your physician will coordinate with paediatric/adult endocrinology, urology/gynaecology, and psychology. Carrier testing for family members can also be arranged.
٣. ماذا بعد صدور النتيجة وكيف تؤثر على متابعتي الطبية؟
النتيجة الإيجابية تستدعي تحويلاً فورياً إلى فريق متعدد التخصصات لاضطرابات التطور الجنسي لوضع خطة علاج هرموني وجراحي ودعم نفسي طويل الأمد.
This service complies with Federal Decree-Law No. 41 of 2024 (Art. 87), UAE Child Rights Law (CDS 2026) regarding minor consent, and the UAE Personal Data Protection Law (PDPL). All genetic data is stored and processed within sovereign UAE servers. ISO 9001:2015 certification guarantees quality management; clinical interpretation follows 2026 DHA molecular pathology guidelines.
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All reports reviewed by DHA-Certified physicians