Test Price
2,800 AED✅ Home Collection Available
HSD17B10 Gene (17‑Beta Hydroxysteroid Dehydrogenase X Deficiency) Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Diagnostic Certainty: 99.9% sensitivity via ISO 9001:2015 certified NGS platform, ensuring definitive identification of pathogenic HSD17B10 variants.
Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection, available daily from 8 AM to 11 PM across all emirates.
Clinical Guidance: DHA‑licensed genetic counsellor provides telephonic post‑test interpretation and multidisciplinary management guidance.
Direct Billing: WhatsApp verification at +971 54 548 8731 — immediate coverage confirmation.
Test Overview & Methodology
The HSD17B10 Genetic Test analyzes the entire coding region of the HSD17B10 gene using next‑generation sequencing (NGS). This test aids in early diagnosis, carrier detection, and family planning for individuals suspected of having 17‑beta hydroxysteroid dehydrogenase X deficiency, a disorder affecting hepatology, nephrology, and endocrinology.
Required Documentation: Comprehensive clinical history (hepatology/nephrology/endocrinology reports) and a three‑generation pedigree chart drawn during a mandatory genetic counselling session. This session can be conducted via our tele‑genetics platform before sample collection.
Sample Options: Whole blood (2–5 mL in EDTA tube), extracted DNA (minimum 1 µg in TE buffer), or one drop of blood on an FTA card (air‑dried). All samples are collected by DHA‑licensed phlebotomists under strict cold‑chain protocols.
| Feature | Our Test (HSD17B10 NGS) | Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% single‑nucleotide variant detection, full exon coverage | 99.0% detection, limited to known hotspots, may miss novel variants |
| Methodology | NGS (Next Generation Sequencing) on Illumina platform, bioinformatic alignment to GRCh38 | Targeted Sanger sequencing of individual exons |
| Turnaround Time | 3–4 Weeks, with optional expedited reporting | 6–8 Weeks, dependent on batch processing |
Physician Insight & Safety Protocols
“A positive HSD17B10 gene test must be correlated with clinical and metabolic findings; it is never a stand‑alone diagnosis. As your referring physician, I strongly recommend discussing results with a multidisciplinary team including a geneticist, endocrinologist, and hepatologist to design a precise management plan. The test interpretation should always be contextualised within the patient’s full clinical picture.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Exclusion Criteria & ER Red Flags
- Active acute illness with fever >38.5°C may delay collection; contact our nurse to reschedule.
- No recent blood transfusion (within 14 days) for DNA extraction from blood; FTA card remains acceptable.
- If the patient experiences sudden vomiting, lethargy, or seizures (signs of metabolic decompensation), seek emergency care immediately before any phlebotomy.
Medication Safety Advisory
Do not discontinue any prescribed medication, particularly anti‑epileptics, hormonal therapies, or dietary supplements, without consulting your doctor. Abrupt cessation can precipitate a metabolic crisis in patients with HSD10 disease. This test does not require any change in your current medication plan.
Patient FAQ & Clinical Guidance
1. How accurate is the HSD17B10 NGS test for detecting mutation carriers?
Our NGS assay provides 99.9% sensitivity for all pathogenic variants, confirmed by orthogonal validation. Carrier status is definitively established, including detection of novel variants missed by older methods.
2. Does a doctor’s referral remain mandatory in the UAE for this genetic test?
Yes, a DHA‑licensed physician’s referral is required under UAE regulations. We facilitate electronic referral upload before scheduling your appointment.
3. Can I collect the sample at home, or must I visit a hospital?
Whole blood and FTA card samples can be collected at your home through our VIP Mobile Phlebotomy service (8 AM–11 PM). Only extracted DNA must be sent via secure medical courier. No invasive procedure is required.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance
This test is conducted 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 are processed exclusively on UAE‑based servers with explicit patient consent. Clinical safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | HSD17B10 Gene (17‑Beta Hydroxysteroid Dehydrogenase X Deficiency) Genetic Test – NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card (dried blood spot) |
| Methodology Used | Next Generation Sequencing (NGS) on Illumina Platform, GRCh38 alignment |
| ICD‑10‑CM Code | E71.1 (Disorders of branched‑chain amino‑acid metabolism) |
| LOINC Code | 82311‑7 (HSD17B10 gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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