Test Price
2,800 AED✅ Home Collection Available
TBX5 Gene Holt-Oram Syndrome Genetic Test in UAE | 2,800 AED | DHA Licensed Lab 1143
Executive Summary & Core Metrics
Definitive Molecular Diagnosis for Holt-Oram Syndrome
This high-depth Next-Generation Sequencing (NGS) assay detects single nucleotide variants, small insertions/deletions, and copy number variations across the entire TBX5 gene, the well-established cause of Holt-Oram syndrome (OMIM #142900).
- Diagnostic Sensitivity: 99.9% through comprehensive coverage of coding exons, intron-exon boundaries, and selected deep intronic regions.
- Turnaround Time: 3–4 weeks from sample receipt to final clinical report.
- Sample Requirements: Whole blood (EDTA tube), extracted DNA, or FTA card.
- Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all UAE emirates.
- Post-Test Consultation: Included telephone genetic counselling session to interpret results and guide clinical management.
Test Overview & Methodology
Holt-Oram syndrome is an autosomal dominant disorder characterized by upper limb malformations and congenital heart defects. The TBX5 gene encodes a transcription factor critical for heart and limb development. Pathogenic variants in TBX5 disrupt this developmental pathway, leading to the clinical phenotype. Our validated NGS platform provides a definitive molecular diagnosis, enabling informed cardiac surveillance and family planning.
| Feature | DNA Labs UAE NGS Assay | Alternative Sanger Sequencing |
|---|---|---|
| Methodology | High-depth NGS (full gene coverage) | Targeted Sanger (specific exons only) |
| Detection Capability | SNVs, indels, CNVs, deep intronic variants | Limited to known point mutations in selected exons |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Diagnostic Sensitivity | 99.9% | ~70% |
| DHA Regulatory Compliance | Full Compliance (License 1143) | Variable by facility |
Physician Insight & Safety Protocols
"This NGS assay provides a highly accurate and definitive molecular diagnosis for Holt-Oram syndrome. However, a negative result does not completely exclude the condition due to the possibility of deep intronic, mosaic, or regulatory region variants that may escape detection by current sequencing platforms. Correlation with detailed echocardiographic and skeletal radiographic findings is essential for comprehensive clinical evaluation. I strongly recommend post-test genetic counselling to contextualize the results, assess familial risk, and guide long-term cardiac surveillance protocols."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Safety & Clinical Management Advisory
Do not alter or discontinue any prescribed cardiac or orthopedic medications based solely on genetic test results. All therapeutic decisions must be made in direct consultation with your treating specialist physician.
Exclusion Criteria for Testing
- Recent allogeneic blood transfusion (within 4 weeks) may compromise DNA extraction quality and result accuracy.
- Patients with a history of allogeneic hematopoietic stem cell transplant should provide a buccal swab or skin fibroblast culture instead of peripheral blood.
- This test is not a substitute for urgent cardiology or orthopedic evaluation in symptomatic individuals.
Patient FAQ & Clinical Guidance
1. What clinical conditions are associated with the TBX5 gene, and how does this test improve diagnostic accuracy?
Pathogenic variants in the TBX5 gene cause Holt-Oram syndrome, a congenital disorder characterized by upper limb abnormalities (e.g., absent thumb, radial dysplasia) and structural heart defects (e.g., atrial septal defect, ventricular septal defect). Our high-depth NGS test provides 99.9% sensitivity for detecting clinically relevant variants across the entire gene, including deep intronic regions that are missed by traditional Sanger sequencing. This comprehensive approach reduces the rate of inconclusive results and enables precise familial risk assessment.
2. Is home sample collection available for this genetic test, and how is specimen integrity maintained?
Yes, DNA Labs UAE offers VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across all UAE emirates (Dubai, Abu Dhabi, Sharjah, Ajman, Ras Al Khaimah, Fujairah, Umm Al Quwain). Our ISO 9001:2015 certified phlebotomists collect samples between 8 AM and 11 PM daily. Blood samples are immediately stabilized in EDTA tubes, placed in validated temperature-monitored containers, and transported directly to our DHA-licensed laboratory in Dubai Healthcare City under continuous cold-chain surveillance to ensure DNA integrity.
3. How can I verify my health insurance coverage for the TBX5 genetic test before proceeding?
Most UAE health insurance providers, including those regulated under DHA standard benefit packages, cover medically indicated genetic testing for Holt-Oram syndrome when supported by a referral from a qualified specialist. To verify your coverage, please send a clear copy of your insurance card and the referring physician's clinical note via WhatsApp to +971 54 548 8731. Our dedicated billing team will process a free pre-authorization verification and direct billing eligibility check within 2 hours during normal business hours.
UAE Regulatory & Data Privacy Adherence
Data Privacy Framework: Your genetic data is processed, stored, and transmitted in strict 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 (Health Data Law).
Clinical Safety Compliance: All clinical testing and patient consent protocols adhere to the standards outlined in Federal Decree-Law No. 4 of 2016 on Medical Liability.
Laboratory Accreditation: DNA Labs UAE operates under DHA Facility License Number 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Our laboratory maintains rigorous internal quality controls aligned with ISO 15189 standards for medical laboratory accuracy and reliability.
Clinical & Logistical Metadata
| Test Name | TBX5 Gene Sequencing (Holt-Oram Syndrome) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS), Full Gene Coverage |
| ICD-10-CM Code | Q87.2 |
| LOINC Code | 100267-2 |
| DHA Facility License & Address | 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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