Test Price
2,800 AEDโ Home Collection Available
ESPN Gene NGS Genetic Test for Autosomal Recessive Deafness Type 36 in UAE | DNA Labs Dubai
Executive Summary & Core Metrics
Statistical Accuracy
>99.9% analytical sensitivity and specificity for SNVs and indels within ESPN coding regions, validated against international reference standards
Cold-Chain Logistics
Premium home phlebotomy utilising ISO-compliant temperature-controlled transport, available daily 8 AM to 11 PM
Counselling Integration
Complimentary pre-test genetic counselling session provided to discuss implications and three-generation pedigree requirements
Direct Billing
Insurance coverage verified via secure WhatsApp gateway prior to sample collection +971 54 548 8731
Test Overview & Methodology
The ESPN gene test utilises high-throughput Next-Generation Sequencing (NGS) to interrogate the entire coding region and splice junctions of the ESPN gene, which encodes the stereocilin protein. Stereocilin is essential for the structural integrity of stereocilia bundles in cochlear hair cells. Pathogenic bi-allelic variants in this gene are the molecular cause of non-syndromic sensorineural hearing loss classified as autosomal recessive deafness type 36 (DFNB36). This DNA-based analysis provides a definitive molecular diagnosis, ending the diagnostic odyssey for affected individuals and delivering precise recurrence risk information for family planning.
| Feature | DNA Labs UAE NGS Platform | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity for SNVs & small indels | ~97% sensitivity per exon |
| Methodology | Targeted NGS full gene coverage (coding exons + splice sites) | Single-exon Sanger sequencing (manual, low throughput) |
| Variant Scope | SNVs, indels, and splice-site variants with VUS classification | Limited to known pathogenic point mutations |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
Physician Insight & Safety Protocols
โThe ESPN gene encodes stereocilin, a developmentally critical protein for stereocilia bundle cohesion in cochlear hair cells. Bi-allelic pathogenic variants in ESPN disrupt this architecture, causing non-syndromic sensorineural hearing loss classified as DFNB36. Our NGS platform provides comprehensive coverage of all coding exons and splice junctions, enabling high-confidence variant detection. A confirmed molecular diagnosis is crucial for accurate recurrence risk estimation and avoids unnecessary invasive diagnostic procedures. I strongly recommend concurrent vestibular assessment, as ESPN mutations can occasionally present with subtle balance dysfunction alongside auditory phenotypes.โ
โ Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Clinical Advisory
Genetic test results must always be interpreted by a qualified medical geneticist in the context of clinical audiometric data and family history. Continuing prescribed therapies, including hearing aid fittings or cochlear implant readiness assessments, remains essential throughout the testing period. Do not discontinue any medication or audiological intervention without prior consultation with your managing physician.
Exclusion Criteria & Emergency Red Flags
- Exclusion โ Syndromic Features: Patients presenting with keratopachydermia, digital constrictions, or ocular anomalies should pursue GJB2 sequencing or comprehensive syndromic NGS panels. This ESPN test is specific for non-syndromic DFNB36.
- Exclusion โ Pedigree Requirement: Individuals unwilling or unable to provide a verified three-generation family pedigree are not suitable candidates for this targeted single-gene analysis.
- Emergency Red Flag: Sudden onset hearing loss, acute vertigo, tinnitus, or any new focal neurological deficits require immediate emergency department evaluation irrespective of genetic testing status.
Patient FAQ & Clinical Guidance
1. What is the ESPN gene test and why is it recommended?
The ESPN gene test sequences the entire coding region of the ESPN gene using NGS to identify pathogenic variants responsible for autosomal recessive deafness type 36 (DFNB36). It is recommended when a patient presents with congenital or early-onset non-syndromic sensorineural hearing loss, a family history consistent with autosomal recessive inheritance, and negative findings for the more common GJB2 mutations. A definitive molecular diagnosis can stop unnecessary investigations and inform precise recurrence risk counselling.
2. How accurate is NGS for detecting ESPN mutations?
Our validated NGS pipeline achieves >99.9% analytical sensitivity for single nucleotide variants and small insertions and deletions within the ESPN coding exons and flanking splice sites. All clinically significant findings are confirmed by orthogonal Sanger sequencing to ensure zero false positives. This level of accuracy provides reliable data for clinical decision-making regarding cochlear implantation candidacy and family planning.
3. What is the process and turnaround time for this test?
The test requires a standard peripheral blood sample (2-4 mL in EDTA) collected by our certified phlebotomist. The sample is transported via temperature-controlled cold chain to our CAP-accredited laboratory. DNA extraction, library preparation, NGS sequencing, and bioinformatics analysis require a standard turnaround time of 3 to 4 weeks. A comprehensive clinical report is delivered electronically and includes variant classification per ACMG guidelines.
4. Does insurance cover this genetic test in the UAE?
Coverage varies by insurance provider and policy. DNA Labs UAE offers a pre-collection insurance verification service via secure WhatsApp (+971 54 548 8731) to confirm direct billing eligibility. For patients without insurance coverage, the test price is fixed at 2,800 AED inclusive of phlebotomy, genetic counselling, and the comprehensive sequencing report.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the legislative framework governing genetic testing and data protection in the emirate of Dubai.
- Data Privacy: All genetic data processing strictly adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring the highest standards of confidentiality and patient consent governance for genomic information.
- Health ICT Compliance: Our digital health infrastructure and genetic data storage systems comply with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety & Consent: Patient counselling and informed consent procedures are conducted in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every patient understands the scope, benefits, and limitations of NGS genetic analysis before sample collection.
- Laboratory Licensing: All testing is performed under the supervision of the Dubai Health Authority, Facility License No. 1143, located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | ESPN Gene NGS Test for Autosomal Recessive Deafness Type 36 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral EDTA) or Buccal Swab | VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS), Full Gene Coverage Including Splice Junctions |
| ICD-10-CM Code | H90.5 |
| LOINC Code | 21653-3 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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