Test Price
2,800 AED✅ Home Collection Available
CHST3 Gene DNA Test for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (NGS) in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- 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.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CHST3 gene NGS test provides definitive molecular diagnosis for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, a rare autosomal recessive skeletal disorder. This test sequences the entire coding region of the gene to detect pathogenic variants, enabling accurate clinical management, genetic counseling, and family screening.
| Feature | Our Genetic Test | Clinical Evaluation Without Genetic Testing |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) of full CHST3 gene | Physical examination, imaging, clinical suspicion |
| Diagnostic Precision | 99.9% analytical sensitivity and specificity | Variable; often inconclusive for definite molecular confirmation |
| Turnaround Time | 3 to 4 Weeks | Immediate clinical opinion; definitive molecular answer unavailable |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasize that this test provides a definitive molecular diagnosis for CHST3-related skeletal dysplasia. However, the results must be interpreted alongside clinical and radiographic findings. Please discuss the implications fully with your specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication without consulting your doctor. This genetic test does not replace ongoing medical treatment or emergency care.
Exclusion Criteria & Red Flags
- Exclusion Criteria: Inability to provide informed consent; recent blood transfusion (<2 weeks) which may affect DNA from a blood sample; non-viable or contaminated sample.
- Emergency Red Flags: If the patient experiences acute joint dislocation with severe pain, swelling, numbness, or pale/blue extremity, seek immediate emergency medical care. This test is not for acute management and will not provide rapid answers.
Patient FAQ & Clinical Guidance
1. What is the purpose of this CHST3 gene test?
This NGS test sequences the entire CHST3 gene to confirm a molecular diagnosis of Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, identifying pathogenic variants with high accuracy. It is used when clinical signs suggest the disorder, allowing precise genetic counseling and informed management decisions.
2. How is the sample collected and is it painful?
Sample collection uses a simple blood draw, one drop of blood on an FTA card, or previously extracted DNA — methods that are minimally invasive and well-tolerated. Our VIP mobile phlebotomy team ensures a comfortable, cold‑chain compliant home collection within 8 AM – 11 PM across the UAE.
3. How long until I get results and what does the 2800 AED cover?
Results are delivered in 3 to 4 weeks with a comprehensive molecular report; the 2800 AED fee includes pre‑test genetic counseling, VIP home collection, and post‑telephonic clinical guidance. Direct insurance billing verification is available via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE is fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree-Law No. 4 of 2016 on Medical Liability. DHA Facility License: 1143. Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | CHST3 Gene DNA Test (NGS) for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral blood (2-5 ml in EDTA) or buccal swab / DNA extraction from blood or saliva. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) targeting the full coding region of the CHST3 gene, including splice sites. |
| ICD-10-CM Code | Q77.7 (Spondyloepiphyseal dysplasia) |
| LOINC Code | 50397-9 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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