Test Price
2,800 AED✅ Home Collection Available
HSD17B10 Gene (X‑Linked Mental Retardation Type 17 / HSD10 Disease) Genetic Test in UAE – 2800 AED – DNA Labs UAE
Executive Summary & Core Metrics
Clinical Privileges & Service Guarantees
- ✓ Diagnostic Sensitivity: 99.9% analytical sensitivity for single nucleotide variants and small indels, validated by an ISO 15189:2022 gold‑standard NGS pipeline.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM, with ISO‑certified transport.
- ✓ Clinical Guidance: Complimentary 15‑minute telephonic post‑test interpretation with a DHA‑licensed genetic counselor.
- ✓ Insurance Assistance: Direct billing verification via WhatsApp at +971 54 548 8731 (reply within one hour).
This advanced NGS‑based test targets the HSD17B10 gene to diagnose X‑linked mental retardation type 17 (MRX17) and HSD10 mitochondrial disease. The assay achieves 99.9% sensitivity for pathogenic variants and is delivered under the regulatory oversight of DNA Labs UAE (DHA Facility License 1143).
Test Overview & Methodology
The HSD17B10 (HADH2) gene encodes 17‑beta‑hydroxysteroid dehydrogenase 10, a mitochondrial enzyme essential for isoleucine metabolism and neurodevelopment. Pathogenic variants cause X‑linked mental retardation type 17 (MRX17) / HSD10 disease, clinically presenting with intellectual disability, choreoathetosis, and progressive neurodegeneration. Our NGS‑based assay covers the entire coding region and deep intronic boundaries with high uniformity, enabling definitive molecular diagnosis.
| Feature | DNA Labs UAE NGS Test | Sanger Sequencing (Single Gene) | Whole Exome Sequencing |
|---|---|---|---|
| Method | Next‑Generation Sequencing (NovaSeq) | Capillary electrophoresis | NGS with exome capture |
| Diagnostic Sensitivity | 99.9% | ~95% (limited to targeted exons) | ~98% (coverage gaps possible) |
| Turnaround Time | 3–4 weeks | 4–6 weeks | 6–8 weeks |
| Intronic Variant Detection | Deep intronic (≥10 bp) | Not covered | Limited |
| Clinical Report | ACMG‑classified, family‑correlated | Basic variant call | Broad, may require reanalysis |
Physician Insight & Safety Protocols
“As the Consultant Medical Genetics specialist overseeing this diagnostic pathway, I confirm that the NGS test for HSD17B10 detects pathogenic mutations with the highest technical confidence. However, the final diagnosis must be integrated with a comprehensive neurological and metabolic evaluation. I strongly encourage families to work closely with their pediatric neurologist and geneticist to interpret the result within the full clinical context.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Advisory – Medication Continuity
Medication Notice
Do not discontinue prescribed medication or supplements without consulting your doctor. Genetic results provide diagnostic information and are not a substitute for medical guidance. Any treatment adjustments must be made under specialist supervision.
Patient Exclusion Criteria & Urgent Red Flags
- 🚫 Inability to consent: The test requires signed informed consent from a legal guardian for minors, in full compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability. Verbal assent is not accepted.
- 🚫 Acute medical instability: Patients hospitalised with uncontrolled seizures, metabolic crises, or respiratory distress should not undergo elective venipuncture.
- 🚨 Emergency red flags: Seek immediate medical attention if you observe sudden loss of developmental milestones, prolonged seizures, severe lethargy, or vomiting suggestive of metabolic acidosis.
Patient FAQ & Clinical Guidance
1. What does the HSD17B10 NGS test diagnose?
This NGS assay identifies pathogenic mutations in the HSD17B10 gene responsible for X‑linked mental retardation type 17, HSD10 mitochondrial disease, and related neurodegenerative disorders. The test provides a definitive molecular diagnosis to guide clinical management and family counseling.
2. How accurate is the genetic test for MRX17 / HSD10 disease?
The assay achieves 99.9% diagnostic sensitivity for single‑nucleotide variants and small insertions or deletions. This performance is validated through an ISO 15189‑accredited bioinformatics pipeline and orthogonal confirmation methods.
3. What sample is required and how long do results take?
A standard peripheral blood sample is collected by a DHA‑licensed phlebotomist during a VIP home visit (available daily 8 AM–11 PM). The final genetic report is delivered within 3–4 weeks from sample receipt.
4. Can I get insurance coverage for this test?
We offer direct billing verification with most UAE insurers. Send your policy details via WhatsApp to +971 54 548 8731 and we will confirm coverage within one hour.
5. Will I receive post‑test genetic counseling?
Yes, every test includes a complimentary 15‑minute telephonic consultation with a DHA‑licensed genetic counselor to explain your results and discuss next steps.
UAE Regulatory & Data Privacy Adherence
Fully Compliant with UAE Law
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – all genetic data is encrypted and access‑controlled.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – secure digital health record handling.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability – informed consent and patient safety protocols are strictly followed.
- ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) – quality management system in place.
Clinical & Logistical Metadata
| Test Name | HSD17B10 Gene (X‑Linked Mental Retardation Type 17 / HSD10 Disease) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM) |
| Methodology Used | Next‑Generation Sequencing (NovaSeq), ISO 15189‑accredited pipeline |
| ICD-10-CM Code | F78 (Other intellectual disabilities) |
| LOINC Code | 81257-3 (HSD17B10 gene targeted mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians