Test Price
2,800 AED✅ Home Collection Available
SOX9 Gene Campomelic Dysplasia Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation and genetic counselling integration.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The SOX9 gene NGS test utilizes next‑generation sequencing to identify pathogenic variants responsible for Campomelic Dysplasia, a rare congenital disorder marked by skeletal malformations and sex reversal. This advanced molecular analysis provides definitive diagnostic clarity for symptomatic individuals and informs reproductive risk assessment for families.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Sanger/Targeted) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full coding region & splice sites | Sanger sequencing of individual exons or targeted mutation panel |
| Diagnostic Yield | Greater than 99.9% sensitivity for single nucleotide variants, indels, and copy number changes | Lower detection of large rearrangements; may miss deep intronic variants |
| Turnaround Time | 3–4 weeks | 6–8 weeks (if full gene needed) |
| Sample Types | Whole Blood, Extracted DNA, or One‑drop Blood on FTA Card | Usually whole blood; DNA extraction required |
Physician Insight & Safety Protocols
“I emphasize the critical importance of interpreting SOX9 results strictly within the comprehensive clinical picture. A positive finding confirms Campomelic Dysplasia, however, clinical management should be guided by multidisciplinary care, not the test result alone. Even a negative result warrants genetic counselling, as ultra-rare variants or other genetic loci may still be contributory.”
— Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice on Medication Adjustments
Medication Warning
Do not discontinue or alter any prescribed medication without consulting your treating physician. Any therapeutic adjustments informed by genetic findings must be managed and supervised by your referring specialist.
Exclusion Criteria & Emergency Red Flags
Home collection is not suitable if:
- Patient requires emergency medical attention.
- Minor is unaccompanied by a legal guardian (per UAE family protection frameworks).
- Individual is unable to provide informed consent.
- Acute febrile illness or active systemic infection is present.
Seek immediate emergency care if:
- Severe difficulty breathing or cyanosis is observed.
- Altered consciousness or unresponsiveness occurs.
- Intractable pain or any sudden deterioration in condition.
Patient FAQ & Clinical Guidance
1. What is the turnaround time for the SOX9 NGS test?
The standard turnaround time is 3 to 4 weeks from sample receipt at our ISO-certified laboratory. This includes full gene sequencing, meticulous variant interpretation, and a detailed clinical report compiled by board-certified molecular geneticists.
2. How is the sample collected for this genetic test?
Sample collection is straightforward and minimally invasive, performed via a standard blood draw or a simple one‑drop finger‑prick onto an FTA card. A DHA‑licensed phlebotomist will conduct the collection at your home or office. Pre‑extracted DNA samples are also accepted if stored and transported under appropriate conditions.
3. What support is provided after receiving the SOX9 results?
After your results are delivered, you will receive a telephonic clinical guidance session to thoroughly explain the findings and their implications. We strongly recommend scheduling a formal genetic counselling consultation to discuss prognosis, family planning options, and any necessary referrals to specialised care.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly operates in accordance with UAE federal laws governing health data and patient privacy:
- Data Protection: Full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Data Usage: Adherence to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety & Consent: Compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability regarding patient safety and informed consent protocols.
All genetic data is handled with the highest degree of confidentiality and security, ensuring full regulatory compliance and patient trust.
Clinical & Logistical Metadata
| Test Name | SOX9 Gene Campomelic Dysplasia Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (21–28 business days) |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or One‑drop Blood on FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Coding Region & Splice Sites |
| ICD-10-CM Code | Q77.3 (Chondrodysplasia punctata, Campomelic dysplasia) |
| LOINC Code | 94228-7 (SOX9 gene sequencing) |
| DHA Facility License & Laboratory Address | DHA License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians