Test Price
2,800 AED✅ Home Collection Available
DIAPH1 Gene (Deafness, Autosomal Dominant 1) Genetic Test
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 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 in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
- Price: 2,800 AED (VAT inclusive).
- Turnaround Time: 3 to 4 Weeks from sample receipt.
Test Overview & Methodology
This test employs Next-Generation Sequencing (NGS) on Illumina® platforms to identify pathogenic variants in the DIAPH1 gene responsible for autosomal dominant non-syndromic hearing loss (DFNA1). The analysis covers all coding regions and splice sites, delivering clinically validated results through a robust bioinformatics pipeline. Early genetic diagnosis enables tailored audiological management, family planning decisions, and access to emerging therapeutic interventions.
| Feature | Our DIAPH1 NGS Test | Closest Alternative (Sanger) |
|---|---|---|
| Methodology | Massively Parallel NGS | Single-Gene Sanger Sequencing |
| Analytical Sensitivity | >99.9% for SNVs and indels | Varies; may miss low-level mosaicism |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks typical |
| Regulatory Compliance | DHA/MOHAP & ISO 9001:2015 | May lack local accreditation |
Physician Insight & Safety Protocols
“The DIAPH1 gene plays a fundamental role in inner ear hair cell structure, and pathogenic variants lead to progressive sensorineural hearing loss that typically begins in childhood. This genetic test provides families with a definitive molecular diagnosis, enabling precise audiological follow-up, genetic counselling, and informed reproductive choices. Knowledge of the underlying genetic cause transforms uncertainty into a clear clinical pathway.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
Do not discontinue prescribed medication or hearing aids without consulting your treating physician. A positive genetic result does not replace ongoing audiological care.
Exclusion Criteria & Clinical Red Flags
- Not indicated for individuals with non-genetic (acquired) hearing loss without clinical suspicion of hereditary etiology.
- Not for minors unless consent is obtained in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and after mandatory genetic counselling.
- If you experience sudden unilateral hearing loss, vertigo, tinnitus with neurological symptoms (facial weakness, vision changes, or severe headache), seek emergency medical attention immediately.
- Pregnancy or lactation is not a contraindication to genetic sampling but requires separate clinical evaluation.
Patient FAQ & Clinical Guidance
1. What is the DIAPH1 gene and its role in hearing loss?
The DIAPH1 gene encodes the protein diaphanous-1, which is essential for the formation and maintenance of stereocilia in inner ear hair cells. Pathogenic variants in this gene cause autosomal dominant non-syndromic hearing loss (DFNA1), a progressive sensorineural hearing loss that typically begins in the first decade of life and affects both ears.
2. How is the test performed and what does the 3 to 4 week turnaround time involve?
A peripheral blood sample (EDTA) or extracted DNA is sequenced using Next-Generation Sequencing on an Illumina® platform to analyze all coding regions and splice sites of the DIAPH1 gene. The 3 to 4 week period includes DNA extraction, library preparation, sequencing, bioinformatics analysis, variant classification, and clinical interpretation by our Consultant Medical Geneticist.
3. Is this test covered by insurance in the UAE?
Many UAE insurers cover genetic diagnostic tests when medically necessary and ordered by a specialist. Our team performs direct billing verification via WhatsApp at +971 54 548 8731 and assists with pre-authorization documentation. Coverage depends on your individual policy and medical necessity criteria.
4. What does a positive result mean for my family?
A positive result confirms a pathogenic variant in the DIAPH1 gene causing hereditary hearing loss. Since the condition is autosomal dominant, each child of an affected individual has a 50% chance of inheriting the variant. We recommend genetic counselling for the patient and at-risk relatives to discuss surveillance, early intervention, and family planning options.
UAE Regulatory & Data Privacy Adherence
- Data Privacy: All genetic data is processed in 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.
- Medical Liability: Patient safety and informed consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Quality Accreditation: ISO 9001:2015 certified under Cert: INT/EGQ/2509DA/3139, ensuring stringent quality management across all laboratory processes.
- Regulatory Licensing: Fully licensed by the Dubai Health Authority (DHA) and Ministry of Health and Prevention (MOHAP).
Clinical & Logistical Metadata
| Test Name | DIAPH1 Gene (Deafness, Autosomal Dominant 1) Genetic Test |
| Price (AED) | 2,800 AED (VAT inclusive) |
| Turnaround Time | 3 to 4 Weeks from sample receipt |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dry Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® Platform with Clinically Validated Bioinformatics Pipeline |
| ICD-10-CM Code | H90.5 |
| LOINC Code | 94121-2 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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