Test Price
2,800 AEDโ Home Collection Available
TBX6 Gene Spondylocostal Dysostosis Type 5 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic post-test clinical guidance in result interpretation by DHA-licensed genetic counsellors.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This genetic test analyzes the entire coding region of the TBX6 gene to confirm a clinical diagnosis of Spondylocostal Dysostosis Type 5 (SCDO5), a rare congenital disorder of vertebral and rib segmentation. Next-Generation Sequencing (NGS) with Sanger confirmation detects pathogenic variants and copy number variations with over 99.9% accuracy, guiding clinical management and genetic counseling for affected individuals and their families.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | Full TBX6 gene sequencing with CNV detection | Targeted mutation panel or whole-exome |
| Method | NGS with Sanger confirmation | PCR, array CGH |
| Speed | 3โ4 Weeks | 6โ8 Weeks typical |
Physician Insight & Safety Protocols
โA molecular diagnosis of Spondylocostal Dysostosis Type 5 through TBX6 sequencing provides critical prognostic information for families. However, phenotypic variability is well documented; correlating genotype with clinical and radiological findings is essential for accurate management. This test should always be performed alongside expert genetic counseling and multidisciplinary specialist follow-up.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Advisory
Do not discontinue or alter any prescribed medication without consulting your treating physician. This genetic test result is not a standalone diagnostic tool and must be interpreted in the full clinical context.
Exclusion Criteria
Individuals who have undergone bone marrow transplantation or received a blood transfusion within the last two weeks may yield non-informative results. Samples must be collected in DHA-approved containers and accompanied by a valid informed consent form.
Emergency Red Flags
If the child develops acute respiratory distress, rapidly progressive scoliosis, or signs of spinal cord compression (new onset limb weakness, loss of bowel or bladder control), seek emergency medical care immediately.
Patient FAQ & Clinical Guidance
1. Who should consider this TBX6 gene test?
This test is indicated for infants and children presenting with clinical or radiological features of spondylocostal dysostosis, including vertebral fusion, rib anomalies, and short trunk dwarfism, to establish a definitive molecular diagnosis and guide family counseling.
2. What sample types are accepted for the test?
We accept whole blood (3โ5 mL in EDTA), extracted DNA (1โ2 ยตg), or a single drop of blood on an FTA card. All specimens must be preserved and transported under temperature-controlled cold-chain logistics to ensure sample integrity.
3. Is genetic counseling required before sampling?
Yes, a pre-test genetic counseling session is mandatory. This includes drawing a detailed pedigree, discussing the autosomal recessive inheritance pattern, reviewing potential implications for family members, and obtaining written informed consent prior to specimen collection.
4. How long does it take to receive results?
The turnaround time is 3โ4 weeks from the date the sample is received at the laboratory. Results are delivered electronically and reviewed in a follow-up telephonic consultation with a DHA-licensed genetic counsellor.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This genetic testing service is performed 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. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory operates under ISO 9001:2015 accreditation (Cert: INT/EGQ/2509DA/3139) and DHA facility license #1143. All genetic data is encrypted and stored in compliance with UAE health data sovereignty requirements.
Clinical & Logistical Metadata
| Test Name | TBX6 Gene Spondylocostal Dysostosis Type 5 Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole blood (3-5 mL in EDTA), extracted DNA (1-2 ยตg), or FTA card blood spot |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q76.4 |
| LOINC Code | 81205-9 |
| DHA Facility License & Address | License #1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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