Test Price
2,800 AED✅ Home Collection Available
SPATA5 Gene Epilepsy, Hearing Loss, and Mental Retardation Syndrome Genetic Test in UAE
Executive Summary & Core Metrics
Confidence Guaranteed: 99.9% diagnostic sensitivity via ISO 9001:2015-accredited NGS sequencing. Enjoy VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Post-test clinical guidance via telephonic consultation ensures result interpretation. Direct insurance billing verification: WhatsApp +971 54 548 8731. All services comply with UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree-Law No. 4 of 2016 on Medical Liability.
Test Overview & Methodology
This advanced NGS test analyzes the entire coding region of the SPATA5 gene, identifying pathogenic mutations that cause a spectrum of neurodevelopmental disorders including epilepsy, sensorineural hearing loss, and intellectual disability. The test uses next-generation sequencing (Illumina platform) with Sanger confirmation for all reported variants, ensuring >99.9% analytical sensitivity and specificity.
| Feature | Our Test (UAE Premier) | Standard Gene Panel |
|---|---|---|
| Precision | >99.9% analytical sensitivity (NGS + Sanger confirmation) | ~95% for targeted exon coverage |
| Methodology | Next-Generation Sequencing (Illumina, ISO accredited) | Sanger-only or smaller NGS panel |
| Turnaround Time | 3 – 4 Weeks | 5 – 6 Weeks |
| Home Collection | Included (8 AM–11 PM, cold-chain) | Often unavailable or extra fees |
| Price | 2800 AED | 3200 – 3500 AED |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: “As a clinical geneticist, I recognize that a molecular diagnosis of SPATA5-related disorder provides crucial guidance for seizure management, hearing intervention, and family planning. This test offers definitive genetic evidence to tailor anti-epileptic therapy and auditory rehabilitation. Always interpret results in conjunction with a complete clinical and family history.”
Important Medication Advisory
⚠ Do Not Alter Medications Without Medical Guidance
Genetic test results do not replace clinical judgment. Do not discontinue or adjust prescribed anticonvulsants, hearing aids, or other therapies without consulting your treating physician. The findings are diagnostic and should inform, not interrupt, ongoing care.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Acute febrile illness, active infection, or recent blood transfusion (within 4 weeks) may invalidate sample or delay collection. Patients on therapeutic anticoagulation require prior assessment.
- Emergency Red Flags (seek immediate medical attention): Sudden severe headache, prolonged seizures lasting more than 5 minutes, loss of consciousness, or difficulty breathing. These test results are for diagnostic purposes only and do not substitute urgent medical care.
Patient FAQ & Clinical Guidance
1. What is the accuracy of the SPATA5 NGS test for diagnosing epilepsy-hearing loss syndrome?
Our next-generation sequencing platform achieves >99.9% analytical sensitivity and specificity, detecting single-nucleotide variants and small insertions/deletions across all coding exons of the SPATA5 gene. This ensures reliable molecular confirmation of the disorder.
2. Which sample types are accepted and how does home collection work?
We accept peripheral whole blood collected in an EDTA tube, extracted genomic DNA, or a dried blood spot on an FTA card. Our certified phlebotomists perform VIP Mobile Phlebotomy at your doorstep with temperature-controlled cold-chain transport daily from 8 AM to 11 PM.
3. What is the turnaround time and can it be expedited?
Standard turnaround time is 3 to 4 weeks from sample receipt. An expedited stat request can shorten the timeline to 2 weeks with an additional processing fee. Contact our team via WhatsApp for details.
4. Will my genetic data remain private and secure?
Absolutely. DNA Labs UAE complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 on health data security. All genetic information is encrypted, anonymized, and never shared without your explicit consent.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient data handling. Our health information systems comply with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and informed consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All laboratory processes are ISO 9001:2015 accredited and audited regularly by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | SPATA5 Gene Epilepsy, Hearing Loss, and Mental Retardation Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks (expedited available) |
| Sample Type / Matrix | Peripheral blood (EDTA), extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (Illumina) with Sanger confirmation |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes), G40.9 (Epilepsy, unspecified), H90.3 (Sensorineural hearing loss, bilateral), F70 (Mild mental retardation) |
| LOINC Code | 81247-9 (SPATA5 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians