Test Price
2,800 AEDโ Home Collection Available
DSPP Gene (Deafness, Autosomal Dominant Type 39 with Dentinogenesis Type I) Genetic Test in UAE
2,800 AED ยท NGS Full Gene Sequencing ยท ISO 9001:2015 Certified ยท DNA Labs UAE
Executive Summary & Core Metrics
Comprehensive Molecular Diagnosis for Hereditary Hearing Loss & Dental Anomalies
- Diagnostic Accuracy: โฅ99.9% sensitivity and specificity via full-coding-region NGS analysis, covering all splice sites and exon boundaries.
- Sample Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ available daily from 8 AM to 11 PM across all UAE emirates.
- Clinical Support: Complimentary telephonic post-test guidance with a board-certified genetic counsellor to contextualize results and coordinate specialist referrals.
- Insurance & Billing: Direct billing verification and pre-authorization support available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The DSPP gene test employs next-generation sequencing to identify pathogenic and likely-pathogenic variants associated with autosomal dominant deafness type 39 (DFNA39) with dentinogenesis imperfecta type I. This test provides a definitive molecular diagnosis for individuals presenting with progressive sensorineural hearing loss and characteristic dental enamel and dentin abnormalities, enabling precise genetic counselling, surveillance planning, and family cascade testing. The assay achieves >99.9% analytical sensitivity and specificity across the entire coding region and conserved splice junctions.
| Feature | DNA Labs UAE NGS Test | Alternative Approach |
|---|---|---|
| Methodology | NGS โ Full Coding Region + Splice Sites | Sanger Sequencing (Single Exon) |
| Analytical Sensitivity | โฅ99.9% | <95% for splice variants |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
| Acceptable Specimens | Whole Blood (EDTA), Extracted DNA, or FTA Card | Whole Blood Only |
| Accreditation | ISO 9001:2015 Certified | Varies by laboratory |
Physician Insight & Safety Protocols
โIn my practice, a positive DSPP variant must always be correlated with comprehensive audiometric assessment and dental clinical evaluation. The genetic result confirms the underlying aetiology of syndromic hearing loss and dentinogenesis imperfecta, but it does not replace periodic audiological surveillance or restorative dental care. I strongly recommend pre- and post-test genetic counselling for every individual undergoing this test.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory & Pre-Test Requirements
๐ Pre-Test Genetic Counselling Recommended
- A three-generation pedigree chart documenting hearing loss and dental phenotypes must accompany the test requisition.
- Informed consent discussing autosomal dominant inheritance, penetrance, and implications for first-degree relatives is mandatory before sample collection.
- Results should be interpreted alongside pure-tone audiometry, speech discrimination scores, and dental radiographs or clinical photographs.
Exclusion Criteria & Clinical Red Flags
- Sample Exclusion: Individuals who have received a blood transfusion within the preceding 14 days should defer sampling for 2 weeks to avoid donor DNA interference. Patients with active systemic infection or febrile illness may proceed but results should be interpreted with caution due to potential lymphopenia affecting DNA yield.
- Emergency Red Flags: Acute sudden hearing loss, vertigo with nausea, or severe dental abscess with facial cellulitis requires immediate ENT or maxillofacial emergency assessment โ do not delay emergency care for genetic testing.
- Logistics: Whole blood (EDTA, 3โ5 mL) or FTA card sample collected by a DHA-licensed phlebotomist under cold-chain protocol. Extracted DNA (โฅ1 ยตg, OD260/280 1.8โ2.0) is also accepted.
Patient FAQ & Clinical Guidance
1. What does the DSPP gene test detect?
This test identifies pathogenic variants in the DSPP gene responsible for autosomal dominant deafness type 39 with dentinogenesis imperfecta type I. It uses full-gene next-generation sequencing to confirm a molecular diagnosis when clinical, audiometric, and dental findings suggest the condition. Confirmation guides surveillance for progressive hearing loss, dental restorative planning, and family genetic counselling.
2. How is the sample collected?
A certified phlebotomist visits your home between 8 AM and 11 PM to collect a small venous blood sample (EDTA tube) or a dried blood spot on an FTA card. The specimen is transported under continuous temperature monitoring to our ISO 9001:2015-accredited laboratory. Alternatively, previously extracted DNA may be submitted directly.
3. How long do results take?
Results are typically delivered within 3 to 4 weeks from sample receipt at the laboratory. A preliminary verbal report can be expedited within 14 days upon clinical urgency. The final written report includes variant classification per ACMG/AMP guidelines, associated phenotype summary, and referral recommendations.
4. Who should consider this test?
Individuals with sensorineural hearing loss and dental enamel hypoplasia or dentinogenesis imperfecta, especially when a family history suggests autosomal dominant inheritance. It is also appropriate for at-risk relatives of a known DSPP variant carrier who wish to clarify their genetic status for reproductive planning and surveillance.
UAE Regulatory & Data Privacy Adherence
Compliance with UAE Federal Data Protection & Health Information Governance Frameworks
- Data Protection: All genetic data is processed in full 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 & Consent: Patient safety and informed consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Laboratory Oversight: DNA Labs UAE is licensed by the Dubai Health Authority under facility number 1143 and maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). All testing is performed under the supervision of board-certified medical geneticists and laboratory professionals.
- Confidentiality: Genetic information is stored on encrypted servers with role-based access; results are released only to the referring physician or the patient following identity verification.
Clinical & Logistical Metadata
| Test Name | DSPP Gene (Deafness, Autosomal Dominant Type 39 with Dentinogenesis Type I) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks from sample receipt |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM โ 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Coding Region & Conserved Splice Sites |
| ICD-10-CM Code | H90.3, K00.5, Z13.71 |
| LOINC Code | 100374-6 |
| DHA Facility License & Laboratory Address | License No. 1143 ยท Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE ยท DNA Labs UAE |
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