Test Price
2,800 AED✅ Home Collection Available
USH1C Gene (DFNB18) Sequencing Test for Autosomal Recessive Deafness Type 18
Executive Summary & Core Metrics
This targeted next-generation sequencing (NGS) analysis of the USH1C gene provides a definitive molecular diagnosis for autosomal recessive deafness type 18 (DFNB18) and Usher syndrome type 1C, achieving over 99.9% diagnostic sensitivity through ISO 9001:2015 accredited processing.
- Accuracy Guarantee: >99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- 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 for comprehensive result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The USH1C gene test employs Next-Generation Sequencing (NGS) with a mean read depth exceeding 100x to interrogate all coding exons, intron-exon boundaries, and deep intronic regions of the USH1C gene. This comprehensive approach identifies pathogenic mutations responsible for autosomal recessive non-syndromic sensorineural deafness type 18 (DFNB18) and the auditory phenotype of Usher syndrome type 1C. Acceptable specimens include whole blood (3–5 mL EDTA tube), extracted genomic DNA, or a dried blood spot on an FTA card.
| Feature | Our Test – Targeted USH1C NGS | Closest Alternative – Single‑Gene Sanger Sequencing |
|---|---|---|
| Precision / Coverage | Full gene: exons, intron–exon boundaries & deep intronic regions; >99.9% sensitivity | Coding exons only; 98–99% sensitivity, may miss deep intronic variants |
| Method | NGS (Next‑Generation Sequencing) | Capillary (Sanger) Sequencing |
| Turnaround Time | 3 – 4 Weeks | 2 – 3 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I recognize the profound impact a hereditary hearing loss diagnosis has on patients and their families. The USH1C gene test offers precise molecular confirmation for DFNB18 and Usher syndrome type 1C, yet these results must be integrated with comprehensive audiological evaluations and structured genetic counseling to guide clinical management and recurrence risk assessment. No single laboratory test replaces a complete clinical workup.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Exclusion Criteria
- Pre-Test Advisory: A formal genetic counseling session to construct a three-generation pedigree chart is strongly recommended before testing.
- Medication Advisory: If a blood sample is to be collected, avoid non-essential anticoagulants 24 hours prior unless medically contraindicated. Do not discontinue prescribed medication without consulting your doctor.
- Exclusion Criteria: Active infection at venipuncture site or uncontrolled bleeding disorder. Inability to provide informed consent (for minors, a legal guardian is required).
- Emergency Red Flags: If you experience fainting, persistent bleeding, or signs of infection after sample collection, visit the nearest emergency room immediately. For new‑onset sudden hearing loss, acute vertigo, or rapidly progressing symptoms, seek urgent medical attention before genetic testing.
Patient FAQ & Clinical Guidance
1. What is the USH1C genetic test and who should consider it?
The USH1C gene test detects mutations causing autosomal recessive deafness type 18 (DFNB18) or Usher syndrome type 1C. It is recommended for individuals with congenital hearing loss, a family history of hereditary deafness, or clinical features suggestive of Usher syndrome. Our targeted NGS analysis provides comprehensive coverage of the USH1C gene to identify pathogenic variants, enabling an accurate diagnosis and informed family planning.
2. How is the test performed and what sample is required?
The test requires a blood sample (3–5 mL EDTA tube), extracted genomic DNA, or a dried blood spot collected on an FTA card. We offer VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection from 8 AM to 11 PM daily to ensure optimal sample integrity. No fasting or special preparation is required, but please inform your phlebotomist about any bleeding tendencies or anticoagulant use.
3. What do my results mean and what is the next step?
A positive result identifies disease-causing mutations, confirming the hereditary cause of deafness and enabling personalized management and recurrence risk assessment for relatives. Post-test genetic counseling is essential to discuss clinical implications, audiologic follow-up, and family screening. A negative result does not completely exclude a genetic etiology, as variants in other hearing loss-associated genes may be responsible.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Frameworks
Your personal data and genetic information are processed under strict adherence to the following UAE federal legislations:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the processing of personal data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating health data security and electronic medical records.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring clinical safety and informed patient consent protocols.
DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | USH1C Gene (DFNB18) Sequencing – Autosomal Recessive Deafness Type 18 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (3–5 mL EDTA tube), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) with >100× mean read depth |
| ICD-10-CM Code | H90.3 (Sensorineural hearing loss, bilateral) / H90.5 (Unspecified sensorineural hearing loss) |
| LOINC Code | 94227-2 (Hearing loss and deafness targeted genomic variant panel) |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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