Test Price
2,800 AEDโ Home Collection Available
SMPX Gene (Deafness, X-Linked Type 4) Genetic Test in UAE
Executive Summary & Core Metrics
Next-Generation Sequencing for X-Linked Non-Syndromic Hearing Loss
This single-gene NGS test analyzes the complete coding region and splice sites of the SMPX gene to detect pathogenic variants responsible for X-linked type 4 deafness. The assay achieves 99.9% diagnostic sensitivity with Sanger confirmation of all reported variants. Results are delivered within 21โ28 working days and include a telephonic interpretation session with a board-certified clinical geneticist. The test supports early audiological intervention, cochlear implant candidacy assessment, and carrier screening for at-risk family members.
- Price: 2,800 AED (direct billing verification via WhatsApp within 2 hours)
- Turnaround: 3โ4 weeks from sample receipt
- Sample: Whole blood, extracted DNA, or FTA card โ VIP mobile phlebotomy available daily 8 AMโ11 PM
- Certification: ISO 9001:2015, DHA-licensed laboratory (License 1143)
Test Overview & Methodology
The SMPX gene (Xp22.11) encodes a small proline-rich protein essential for inner ear hair cell function. Pathogenic variants cause progressive sensorineural hearing loss beginning in childhood, often leading to severe-to-profound deafness by adulthood. This test employs targeted next-generation sequencing with full-gene coverage including 5โฒ and 3โฒ untranslated regions, followed by orthogonal validation of all clinically significant variants via Sanger dideoxy sequencing. Bioinformatic analysis uses ClinVar, HGMD, and gnomAD population databases to classify variants according to ACMG/AMP guidelines.
| Feature | SMPX Single-Gene NGS | Multi-Gene Hearing Loss Panel |
|---|---|---|
| Target Coverage | 100% SMPX coding exons + splice junctions, average depth 500ร | Variable depth across 80+ genes; may underrepresent SMPX |
| Variant Confirmation | Mandatory Sanger sequencing for all pathogenic/likely pathogenic variants | Typically NGS only; reflex confirmation on request |
| Turnaround Time | 21โ28 working days (3โ4 weeks) | 6โ8 weeks |
| Price (AED) | 2,800 | 4,200โ5,500 |
Physician Insight & Safety Protocols
"Identifying a pathogenic SMPX variant transforms the clinical trajectory for children with progressive X-linked hearing loss. It enables precise prognostication, optimal timing for cochlear implantation, and informed recurrence risk counselling for families. However, genetic results must always be correlated with audiometric data, imaging, and a thorough physical examination. No molecular finding replaces comprehensive otological and audiological assessment."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory: Medication and Clinical Precautions
Patients currently prescribed ototoxic medications (aminoglycosides, loop diuretics, or platinum-based chemotherapies) should not discontinue treatment prior to sample collection. The genetic test requires only a peripheral blood draw or buccal sample and does not necessitate any medication washout. Individuals with a history of coagulopathy or anticoagulant therapy must inform the phlebotomist; standard venipuncture precautions apply. The test is non-invasive and carries no drug interaction risk.
Patient Exclusion Criteria & Emergency Indicators
- Exclusion: Uncorrected coagulopathy (INR >1.5), active systemic infection with fever >38.5ยฐC, inability to provide informed consent without a legal representative, and pregnancy unless deemed clinically necessary after genetic counselling review.
- Emergency red flags: Sudden-onset sensorineural hearing loss accompanied by vertigo, tinnitus, otalgia, or focal neurological deficits requires immediate emergency department evaluation at the nearest DHA-licensed facility prior to any genetic testing.
- Paediatric protocol: Minors require written parental or guardian consent and mandatory pre-test genetic counselling. A certified paediatric phlebotomist performs sample collection using age-appropriate techniques.
Patient FAQ & Clinical Guidance
1. What is the SMPX gene deafness test and how does it work?
This targeted next-generation sequencing test reads the entire SMPX gene to identify mutations that cause X-linked type 4 non-syndromic hearing loss. DNA extracted from your blood or FTA card is amplified, sequenced on an Illumina platform, and compared against reference genomes and clinical databases. Any detected variants are classified according to international ACMG/AMP standards and confirmed by Sanger sequencing. The report indicates whether a pathogenic or likely pathogenic variant is present, guiding audiological management, cochlear implant timing, and family planning.
2. How accurate is the test and when will I receive my results?
The assay achieves 99.9% diagnostic sensitivity for SMPX coding-region mutations. All clinically significant variants are orthogonally verified by Sanger dideoxy sequencing, eliminating false positives from NGS artefacts. Results are delivered within 21โ28 working days via a secure digital report. A complimentary telephonic consultation with a Consultant Medical Genetics is included to explain findings, discuss inheritance patterns, and coordinate with your ENT or audiologist.
3. Can this test be performed for children and what consent is required?
Yes, the test is suitable for paediatric patients. Federal Decree-Law No. 4 of 2016 on Medical Liability mandates that all genetic testing for minors be preceded by formal written consent from a parent or legal guardian and a pre-test genetic counselling session. A clinical geneticist meets the family (in-clinic or via video) to discuss the implications, review the family pedigree, and obtain informed consent. Sample collection for children is performed by a phlebotomist trained in paediatric venipuncture to minimize discomfort.
4. What sample types are accepted and how is home collection arranged?
Accepted sample types include peripheral whole blood (2โ4 mL in EDTA), extracted DNA (minimum 500 ng at >10 ng/ยตL), or FTA card dried blood spots. Our VIP Mobile Phlebotomy service is available daily from 8 AM to 11 PM across all UAE emirates. A licensed nurse arrives at your home or office using temperature-controlled cold-chain transport for sample integrity. Same-day courier transfer to the DNA Labs UAE facility in Dubai Healthcare City ensures rapid processing start.
UAE Regulatory & Data Privacy Adherence
This genetic testing service operates 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. All genetic data is encrypted at rest and in transit, stored on UAE-based servers, and accessible only to authorized clinical personnel. Patient consent is obtained prior to testing, and results are shared exclusively with the ordering physician and the patient through a secure digital portal. No genetic information is disclosed to third parties without explicit written authorization. The laboratory holds DHA Facility License No. 1143 and is subject to regular inspection by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | SMPX Gene (Deafness, X-Linked Type 4) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 21โ28 working days (3โ4 weeks) |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card | VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AMโ11 PM) |
| Methodology Used | Next-Generation Sequencing (Illumina) with Sanger Confirmation |
| ICD-10-CM Code | H90.3 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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