Test Price
2,800 AED✅ Home Collection Available
HSD17B4 Gene Perrault Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS sequencing.
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 a Consultant Medical Geneticist for result interpretation.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The HSD17B4 NGS test analyzes the entire coding sequence of the HSD17B4 gene to identify pathogenic variants causing Perrault syndrome, a rare autosomal recessive disorder characterized by sensorineural hearing loss and ovarian dysgenesis in females. This test is essential for confirming clinical diagnosis, carrier screening, and guiding reproductive decisions, typically ordered by Neurologists, Clinical Geneticists, and Pediatricians.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; full exon coverage + copy number variants | Limited to selected exons; lower sensitivity for large deletions/duplications |
| Methodology | Next‑Generation Sequencing (NGS) with bio‑informatic pathogenicity analysis | Capillary electrophoresis of PCR‑amplified fragments |
| Turnaround Time | 3 to 4 Weeks | Typically 6 to 8 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"As a clinical geneticist, I stress that genetic test results must be interpreted in the context of full clinical evaluation and family history. This NGS test provides high sensitivity for coding variants but may not detect all non‑coding or structural variants. Confirmatory testing and pre‑ and post‑test genetic counseling are essential for informed decision‑making."
Advisory – Medication & Clinical Guidance
Do not discontinue prescribed medication without consulting your doctor.
Always consult your neurologist or geneticist before making any changes to your treatment plan based on test results.
Exclusion Criteria & Emergency Red Flags
Safety Box
- Exclusion Criteria: This test is not intended for asymptomatic individuals without a family history suggestive of Perrault syndrome (sensorineural hearing loss plus ovarian dysgenesis). It is not a substitute for comprehensive genetic counseling.
- Emergency Red Flags: If you experience sudden hearing loss, acute neurological deficits (ataxia, seizures), or signs of ovarian torsion (severe pelvic pain), seek emergency medical care immediately – regardless of genetic testing status.
Patient FAQ & Clinical Guidance
1. What is the HSD17B4 gene test, and who should consider it?
The HSD17B4 Genetic Test detects pathogenic variants in the HSD17B4 gene linked to Perrault syndrome, a rare disorder causing sensorineural hearing loss and premature ovarian failure. It is recommended for individuals with clinical signs of Perrault syndrome, a family history of the condition, or couples planning pregnancy with known carrier status. A neurologist or clinical geneticist should order the test after appropriate genetic counseling and pedigree analysis.
2. How is the sample collected and what is the turnaround time?
A certified phlebotomist collects a whole blood sample, extracted DNA, or dried blood spot on an FTA card during a home or clinic visit. After cold‑chain transport to our ISO‑accredited genomics laboratory, the full HSD17B4 gene is sequenced via NGS and results are delivered within 3 to 4 weeks. Patients receive a comprehensive report, and a post‑test tele‑consultation with a genetic expert is included.
3. Is this test covered by insurance in the UAE?
Many UAE health insurers cover medically necessary genomic testing for Perrault syndrome when supported by a specialist referral; we offer direct billing verification via WhatsApp at +971 54 548 8731. Our team checks your policy’s coverage for the HSD17B4 NGS (2800 AED) before sample collection, ensuring transparency and minimal out‑of‑pocket surprise.
UAE Regulatory & Data Privacy Adherence
This service fully complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring your genetic and personal data are processed lawfully and stored securely.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing electronic health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – safeguarding patient consent and clinical safety throughout the testing process.
Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | HSD17B4 Gene Perrault Syndrome Next‑Generation Sequencing (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral), Extracted DNA, or Dried Blood Spot – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection |
| Methodology Used | Next‑Generation Sequencing (NGS) with bioinformatic pathogenicity analysis; full exon coverage and CNV detection |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 83525-9 |
| 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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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians