Test Price
2,800 AED✅ Home Collection Available
TGFB1 Gene Camurati-Engelmann Disease Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited Next-Generation Sequencing (NGS) across the entire coding region of TGFB1.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 11 PM) for whole blood, extracted DNA, or FTA card specimens.
- Clinical Guidance: Complimentary telephonic post-test interpretation by a DHA-licensed Consultant Medical Genetics specialist.
- Insurance: Direct billing verification – WhatsApp +971 54 548 8731.
- Turnaround Time: 3 to 4 weeks from sample receipt to final signed molecular report.
Test Overview & Methodology
This advanced molecular diagnostic test analyses the entire coding region and splice sites of the TGFB1 gene using Next-Generation Sequencing on an Illumina platform to confirm or exclude Camurati-Engelmann disease (progressive diaphyseal dysplasia). The assay detects single nucleotide variants, insertions, deletions, and small indels with 99.9% sensitivity. A detailed three-generation pedigree chart and formal genetic counselling documentation must accompany the test requisition. Results correlate with clinical findings and imaging to establish a definitive diagnosis.
| Feature | Our TGFB1 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene coverage, detects all variant types (SNVs, indels) with 99.9% sensitivity | Targeted exon analysis only; may miss deep intronic or large rearrangements |
| Methodology | NGS (Next-Generation Sequencing) – Illumina platform, ISO 9001:2015 certified laboratory | Sanger sequencing, lower throughput |
| Turnaround Time | 3 to 4 weeks | 5 to 6 weeks |
| Price (AED) | 2,800 | 3,200 – 3,800 |
| Sample Acceptance | Whole blood, extracted DNA, or FTA card spot | Blood only |
Physician Insight & Safety Protocols
“Every result from the TGFB1 NGS test must be interpreted within the full clinical and family history. A positive finding confirms the diagnosis, but a negative result does not rule out other bone dysplasias. Always correlate with imaging and symptoms before finalising management. Pre-test genetic counselling and written informed consent are mandatory under UAE law for genetic testing in minors.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication & Clinical Judgement
⚠️ Do not discontinue any prescribed medication or alter your child’s treatment plan without consulting your physician. This genetic test is a diagnostic aid, not a substitute for clinical judgement.
Exclusion Criteria & Red Flags
- Exclusion: Sample collected from a patient who has undergone allogeneic bone marrow transplant within the last six months – donor DNA may confound results.
- Exclusion: Blood sample drawn without prior genetic counselling appointment and signed written informed consent (as required by Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Emergency Red Flag: If the patient develops acute bone pain, pathological fracture, or neurological signs (e.g., cranial nerve compression), seek immediate hospital care; do not await test results.
Patient FAQ & Clinical Guidance
1. What does a positive TGFB1 NGS test mean for my child’s diagnosis?
Answer: A positive result confirms a disease-causing variant in the TGFB1 gene, establishing a definitive molecular diagnosis of Camurati-Engelmann disease when accompanied by characteristic clinical and radiological findings. The test report includes a clinical correlation note signed by a DHA-licensed Consultant Medical Genetics specialist.
2. How long does it take to receive the test report and who interprets it?
Answer: The NGS workflow and rigorous bioinformatics analysis require 3 to 4 weeks. The final report is reviewed and signed by a DHA-licensed Consultant Medical Genetics and includes a clinical correlation note integrating family history, imaging, and symptoms.
3. Is pre-test genetic counselling mandatory before this test?
Answer: Yes. UAE law (Federal Decree-Law No. 4 of 2016 on Medical Liability) requires formal genetic counselling prior to testing for hereditary disorders. A three-generation pedigree chart must be documented and written informed consent obtained from legal guardians for minors.
4. Will my insurance cover this genetic test in the UAE?
Answer: Most UAE insurers cover diagnostic genetic testing for suspected hereditary bone disorders when a physician’s referral and prior authorisation are provided. Our support team verifies benefits directly via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and complies fully 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. All genetic data is encrypted, access-controlled, and processed exclusively within UAE borders. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | TGFB1 Gene Camurati-Engelmann Disease Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted genomic DNA, or FTA card spot |
| Methodology Used | Next-Generation Sequencing (Illumina platform), full coding region & splice sites |
| ICD-10-CM Code | Q78.3 (Progressive diaphyseal dysplasia) |
| LOINC Code | 82939-0 (TGFB1 gene sequencing) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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