Test Price
2,800 AED✅ Home Collection Available
TBX15 Gene Cousin Syndrome NGS Genetic Test in Dubai | 2,800 AED
Executive Summary & Core Metrics
The TBX15 Gene Cousin Syndrome NGS Test delivers a definitive molecular diagnosis for Cousin syndrome — a rare autosomal recessive disorder characterised by craniofacial dysmorphism, neonatal joint contractures, and skeletal anomalies. Using massively parallel next-generation sequencing on the Illumina platform, the assay achieves 99.9% diagnostic sensitivity across all coding exons with a 1% variant frequency detection limit. The all-inclusive price is 2,800 AED with a turnaround time of 3 to 4 weeks. Every report is accompanied by a post-test tele-genetic counselling session to guide clinical decision-making and family planning.
Insurance verification can be initiated via WhatsApp at +971 54 548 8731. The test is performed at DNA Labs UAE under DHA Facility License No. 1143, adhering to UAE federal data protection and healthcare technology standards.
Test Overview & Methodology
The TBX15 Gene Cousin Syndrome Genetic Test detects pathogenic and likely pathogenic variants in the T-box 15 gene. This NGS assay provides comprehensive coverage of all coding exons including intronic boundaries (±20 bp), enabling identification of single nucleotide variants, small insertions and deletions, and copy number alterations. The analytical sensitivity of 99.9% ensures confident variant calling while minimising false negatives.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Technology | Massively parallel Next Generation Sequencing (Illumina) | Capillary electrophoresis-based single-gene sequencing |
| Sensitivity | 99.9% for single nucleotide variants & small indels | ~98% for targeted exons only |
| Turnaround Time | 3–4 weeks | 5–8 weeks |
| Coverage | Full gene including intronic boundary (±20 bp) | Selected exons, may miss deep-intronic variants |
| Cost in UAE | 2,800 AED (all-inclusive) | Approx. 2,400 AED (may exclude counselling) |
Physician Insight & Safety Protocols
“Cousin syndrome is a rare diagnosis that demands both precise molecular confirmation and careful clinical correlation. As a consultant medical geneticist, I encourage families undergoing this test to pair it with a comprehensive dysmorphology evaluation. The emotional journey of pursuing a genetic cause for a child’s differences is profound, and our team is here to support you with compassionate, expert interpretation. This test is a diagnostic tool that works alongside ongoing medical care — it does not replace the advice of your treating physician.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory & Informed Consent Framework
Essential Pre-Test Requirements
- A board-certified clinical geneticist must interpret all results within the full clinical context; this test is not a standalone diagnostic.
- Explicit parental or guardian consent is mandatory for paediatric samples, accompanied by a pre-test genetic counselling session as required by UAE regulation.
- Do not collect specimens during an acute febrile episode or when the patient is haemodynamically unstable.
- Urgent Clinical Red Flags: Sudden respiratory distress, cyanosis, or signs of sepsis warrant immediate emergency care — prioritise clinical stabilisation over sample collection.
- Provide a complete list of current medications on the clinical history form to avoid misinterpretation of metabolic or haematological parameters.
Exclusion Criteria & Contraindications
Contraindications to Testing
- Patients with known bone marrow transplant from a donor — results may reflect donor DNA rather than the patient’s constitutional genotype.
- Active haematological malignancy that may interfere with DNA extraction and sequencing accuracy.
- Insufficient or degraded DNA specimen (e.g., severe haemolysis, clotted sample) — recollection will be requested at no additional cost.
- Withholding of informed consent or inability to complete mandatory pre-test genetic counselling.
- Use of anticoagulant therapy that may increase bleeding risk during venipuncture — consult with the referring physician before scheduling the draw.
Patient FAQ & Clinical Guidance
1. What exactly does the TBX15 Gene Cousin Syndrome NGS test detect?
This NGS panel analyses the entire TBX15 gene sequence to identify pathogenic or likely pathogenic variants responsible for Cousin syndrome with 99.9% analytical sensitivity. It screens for single nucleotide variants, small insertions and deletions, and copy number variations known to produce the characteristic craniofacial and skeletal phenotype. A positive result confirms the clinical suspicion and guides reproductive counselling; a negative result may prompt broader genomic investigation such as whole-exome sequencing.
2. Is special preparation or fasting required, and how is the sample collected?
No fasting or dietary restrictions are needed; the test requires a simple peripheral blood draw, extracted DNA, or a few drops on an FTA card. Our DHA-licensed mobile phlebotomy team visits your home between 8 AM and 11 PM using a sterile, single-use kit. The specimen is transported under temperature-controlled cold-chain to the DNA Labs UAE facility. A clinical history form and signed informed consent (including paediatric assent when applicable) must be completed at the time of collection. Pre-test genetic counselling is provided to ensure you fully understand the implications of testing.
3. How reliable are the results, and what does a “variant of uncertain significance” mean?
The test’s 99.9% diagnostic sensitivity means clinically significant pathogenic variants are reliably identified; however, a small percentage of results return a variant of uncertain significance (VUS). A VUS indicates that the genetic change lacks sufficient evidence to be classified as definitely disease-causing. Follow-up with a consultant medical geneticist is essential for reinterpretation. Our post-test counselling includes a free VUS re-evaluation every 12 months as new scientific data emerge, and we encourage enrolment in global variant databases to resolve ambiguity over time.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance
DNA Labs UAE complies fully with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all genetic and personal data processing, and with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for electronic health records and tele-genetic counselling. Clinical safety, patient consent, and medical liability are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic information is encrypted, access-controlled, and never shared with third parties without your explicit written consent. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | TBX15 Gene Cousin Syndrome NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood / DNA (FTA Card acceptable) |
| Methodology Used | Massively Parallel Next Generation Sequencing (Illumina) |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes affecting multiple systems) |
| LOINC Code | 55221-3 (Gene analysis [Identification] by sequencing) |
| DHA Facility License & Lab Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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