Test Price
2,800 AEDโ Home Collection Available
DLL3 Gene โ Spondylocostal Dysostosis, Autosomal Recessive Type 1 (Genetic Next-Generation Sequencing Test) in Dubai, 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 & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AMโ11 PM).
Clinical Guidance: Complimentary telephonic post-test result interpretation by a DHA-licensed Consultant Medical Geneticist.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The DLL3 gene Next-Generation Sequencing (NGS) test identifies pathogenic variants in the DLL3 gene responsible for autosomal recessive spondylocostal dysostosis type 1, a rare congenital skeletal disorder characterised by vertebral segmentation defects, rib fusions, short trunk, and scoliosis. This comprehensive molecular analysis provides definitive diagnostic confirmation, enabling accurate genetic counselling and recurrence risk assessment for affected families.
| Feature | Our Service (DHA-Licensed) | Alternative Offerings |
|---|---|---|
| Molecular Resolution | Full gene sequencing with copy number variant (CNV) analysis via NGS | Targeted mutation panels or Sanger sequencing (limited coverage) |
| Turnaround Time | 3โ4 Weeks (expedited reporting available upon request) | 6โ8 Weeks (international reference laboratories) |
| Regulatory Compliance | MOHAP/DHA licensed facility (License: 1143), ISO 9001:2015, UAE PDPL | May lack local UAE accreditation or PDPL adherence |
Physician Insight & Safety Protocols
โAs a Consultant Medical Geneticist, I recognise that receiving a diagnosis of spondylocostal dysostosis can be emotionally challenging for families. This NGS-based test provides definitive molecular confirmation, enabling personalised management plans and informed genetic counselling. It is essential that laboratory results are always correlated with clinical and radiological findings, and that therapeutic decisions are made under specialist supervision.โ
Safety Advisory & Pre-Procedure Precautions
โ ๏ธ Important Clinical Reminder
Do not discontinue any prescribed medication, supplement, or therapy without prior consultation with your treating physician. This test is intended to support, not replace, the clinical judgment of your healthcare provider.
Exclusion Criteria & Emergency Red Flags
- Home phlebotomy is contraindicated in patients with active bleeding disorders, platelet count <50,000/ฮผL, or those on high-dose anticoagulants without INR/PTT clearance.
- Results are not actionable in isolation; do not initiate or alter treatment without specialist interpretation from a qualified medical geneticist.
- If the patient develops acute respiratory distress, chest pain, or signs of spinal cord compression (new limb weakness, numbness, loss of bowel/bladder control), seek emergency medical care immediately.
Patient FAQ & Clinical Guidance
1. What is the DLL3 gene spondylocostal dysostosis test and why is it needed?
This NGS test detects pathogenic mutations in the DLL3 gene that cause autosomal recessive spondylocostal dysostosis type 1. It is indicated for patients presenting with multiple vertebral segmentation defects, rib fusions, short trunk, and scoliosis. A definitive molecular diagnosis guides surgical planning, pulmonary management, and genetic counselling for recurrence risk assessment.
2. How is the test performed and what sample is required?
A peripheral blood sample (5โ10 mL) is collected via standard venipuncture. Our VIP Mobile Phlebotomy service can perform the draw at your home or office between 8 AM and 11 PM daily, under strict temperature-controlled cold-chain conditions. Alternatively, you may visit our Dubai Healthcare City facility. The blood is processed for DNA extraction, followed by NGS library preparation, sequencing, and bioinformatic analysis.
3. What is the total cost in the UAE and how do I arrange the test?
The total price is 2,800 AED, inclusive of home collection, NGS analysis, and a post-test telephonic consultation with a Consultant Medical Geneticist. Contact our support team via WhatsApp at +971 54 548 8731 to schedule an appointment. We provide direct insurance billing verificationโsimply send a photo of your insurance card. Self-pay patients can complete payment online before sample collection.
4. How long does it take to receive results, and who interprets them?
The turnaround time is 3โ4 weeks from sample receipt. Expedited reporting may be available upon request. Results are interpreted by our Consultant Medical Geneticist (Lina Osama Zaki Quteineh, DHA ID: 9294403) and communicated via your preferred channel. A complimentary telephonic session is offered to explain findings and discuss clinical implications.
UAE Regulatory & Data Privacy Adherence
Compliance Framework & Patient Data Protection
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governs the lawful collection, processing, and storage of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulates electronic health records and telemedicine services.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ establishes clinical safety standards and informed consent requirements for diagnostic procedures.
- All genetic data is stored on encrypted servers within the UAE, with access restricted to authorised medical personnel only.
Clinical & Logistical Metadata
| Test Name | DLL3 Gene โ Spondylocostal Dysostosis, Autosomal Recessive Type 1 (Genetic NGS Test) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube, 5โ10 mL) |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV Analysis |
| ICD-10-CM Code | Q76.4 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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