Test Price
2,800 AEDโ Home Collection Available
TBC1D24 Gene DOOR Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ 11 PM).
- Clinical Guidance: Telephonic post-test genetic counseling included.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
- DHA License: 1143 | DNA Labs UAE, Dubai Healthcare City.
Test Overview & Methodology
The TBC1D24 Gene DOOR Syndrome NGS Test is a gold-standard diagnostic sequencing assay that identifies pathogenic variants in the TBC1D24 gene, associated with the rare autosomal recessive DOOR syndrome (Deafness, Onychodystrophy, Osteodystrophy, and Intellectual Disability). This comprehensive test uses Next Generation Sequencing (NGS) to analyze all coding exons and intron-exon boundaries, providing superior coverage and sensitivity over traditional Sanger sequencing.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% analytical sensitivity โ full gene coverage | Targeted exon analysis only |
| Methodology | Next Generation Sequencing (NGS) | Sanger sequencing |
| Turnaround Time | 3 โ 4 Weeks | 6 โ 8 Weeks |
| Sample Type | Peripheral Whole Blood, Dried Blood Spot (FTA Card), or Pre-extracted DNA | Blood only |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) โ โAs a consultant medical geneticist, I emphasize that this NGS-based test provides definitive molecular diagnosis for TBC1D24-associated DOOR syndrome. However, clinical correlation with the patientโs hearing, nail, bone, and neurodevelopmental status is essential. Post-test genetic counseling is critical for family planning and cascade screening.โ
Advisory โ Medication & General Care
- Do not discontinue or alter any prescribed medication without consulting your treating physician. This genetic test is a diagnostic tool and does not replace acute medical management.
- Pre-test genetic counseling is mandatory; our team provides both pre- and post-test telephonic guidance.
Safety Exclusion Criteria & Red Flags
- Exclusion: Active systemic infection or recent blood transfusion (within 2 weeks) may require rescheduling for whole blood collection. Non-consenting adults and minors without legal guardian consent are not eligible.
- Emergency Red Flags: If the individual experiences new-onset seizures, acute respiratory distress, sudden worsening of hearing loss, or signs of increased intracranial pressure, seek immediate emergency medical care. This test is not for acute diagnosis.
Patient FAQ & Clinical Guidance
1. What is the TBC1D24 DOOR syndrome genetic test?
This advanced NGS test accurately identifies TBC1D24 gene mutations causing DOOR syndrome, a rare disorder. It analyzes all coding regions of the TBC1D24 gene using next-generation sequencing to detect pathogenic variants responsible for the classic DOOR tetrad: sensorineural deafness, onychodystrophy, osteodystrophy, and intellectual disability. Results guide clinical management, surveillance, and genetic counseling for families.
2. How is the test performed and what is the turnaround time?
A small blood sample, one drop on an FTA card, or pre-extracted DNA is collected by a DHA-certified phlebotomist in a cold-chain home visit. The sample undergoes NGS processing with bioinformatics analysis, yielding a comprehensive clinical report in 3 to 4 weeks. Pre-test genetic counseling is mandatory, and our team provides post-test telephonic guidance.
3. Who should consider this genetic test?
This is recommended for individuals with clinical features suggestive of DOOR syndrome and their at-risk family members. Pediatricians, clinical geneticists, and neurologists often order it when a child presents with congenital deafness, nail and bone abnormalities, and developmental delay. Carrier testing and prenatal diagnosis for known familial mutations are also possible after appropriate genetic counseling.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE 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. Genetic data is handled with strict confidentiality, encrypted storage, and processed only under explicit patient consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | TBC1D24 Gene DOOR Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 โ 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, Dried Blood Spot (FTA Card), or Pre-extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) โ Full Gene Sequencing |
| ICD-10-CM Code | Q87.8 |
| 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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