Test Price
5,000 AED✅ Home Collection Available
TBX5 Full-Length Gene Sequence Analysis (Holt-Oram Syndrome) in UAE | 5000 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Performance & Service Highlights
- Diagnostic accuracy exceeding 99.9% via ISO-certified Sanger sequencing with complete coverage of coding exons and splice-site junctions.
- VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM for blood specimens.
- Post-test telephonic genetic counselling session included to discuss results, inheritance patterns, and family screening options.
- Direct insurance verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The TBX5 Full-Length Gene Sequence Analysis detects pathogenic variants in the TBX5 gene, confirming a diagnosis of Holt-Oram syndrome—a rare genetic disorder characterized by upper limb anomalies and congenital heart defects. This test employs Sanger sequencing, the gold-standard method, to achieve comprehensive coverage of all coding exons and flanking splice-site regions.
| Feature | Our Premium Test | Closest Alternative |
|---|---|---|
| Precision & Method | Sanger Sequencing (gold standard, 100% coverage of coding exons and splice sites) | NGS multi-gene panel; may miss deep intronic or large deletion events |
| Turnaround Time | 4–6 weeks | 3–4 weeks (faster but less comprehensive for TBX5) |
| Price | 5000 AED | ~6000 AED (panel) |
Physician Insight & Safety Protocols
"A definitive molecular diagnosis of Holt-Oram syndrome empowers families with critical information for cardiac surveillance, orthopaedic planning, and reproductive counselling. While Sanger sequencing of TBX5 offers exceptional analytical sensitivity, the results must always be interpreted alongside clinical findings, echocardiography, and skeletal imaging. Our multidisciplinary team is committed to supporting you throughout the diagnostic journey."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory & Medication Safety
⚠️ Important Medication & Clinical Caution
Do not discontinue any prescribed cardiac or anticoagulation therapy without consulting your specialist. Any changes to medication regimens must be managed by the treating physician based on integrated clinical and genetic findings.
Exclusion Criteria & Safety Limitations
- This analysis does not detect copy number variations (CNVs) or deep intronic mutations outside the sequenced regions.
- It is not a substitute for fetal echocardiography or skeletal dysplasia ultrasound; a normal result does not rule out phenocopies.
- Not intended for asymptomatic individuals without a family history or clinical suspicion of Holt-Oram syndrome.
- Emergency red flags: Sudden cyanosis, severe chest pain, or acute limb ischemia requires immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the TBX5 Full-Length Gene Sequence Analysis?
This test detects disease-causing mutations in the TBX5 gene associated with Holt-Oram syndrome. It uses Sanger sequencing to analyze the entire coding region, enabling accurate diagnosis, family screening, and prenatal planning.
2. Who should consider this test?
Individuals with clinical features suggestive of Holt-Oram syndrome—such as thumb anomalies, radial ray defects, atrial septal defect, or other congenital heart malformations—are candidates. It is also recommended for at-risk family members and for prenatal diagnosis when a familial mutation is known.
3. How is the sample collected?
A peripheral blood sample is collected via our VIP mobile phlebotomy service, with strict temperature-controlled cold-chain transport to the laboratory. Prenatal specimens (amniotic fluid, chorionic villi, or cord blood) require hospital-based extraction by a qualified obstetrician.
4. When will I receive my results?
The turnaround time is 4–6 weeks from sample receipt. A telephonic counselling session with a genetic specialist is scheduled upon result release to explain the findings and discuss next steps.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
All testing and data handling procedures comply 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. Patient consent and clinical safety protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). For insurance billing verification, contact WhatsApp +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | TBX5 Full-Length Gene Sequence Analysis (Holt-Oram Syndrome) |
| Price (AED) | 5000 AED |
| Turnaround Time | 4–6 weeks |
| Sample Type / Matrix | Peripheral Blood (VIP Mobile Phlebotomy available) or Prenatal Specimen (Amniotic Fluid, Chorionic Villi, Cord Blood — Hospital Extraction Only) |
| Methodology Used | Sanger Sequencing (full coding exons and splice sites) |
| ICD-10-CM Code | Q87.2, Z82.79, Z13.79 |
| LOINC Code | 77130-7 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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