Test Price
2,800 AEDโ Home Collection Available
CHST14 Gene Ehlers-Danlos Syndrome, Musculocontractural Type 1 Genetic Test in UAE | 2800 AED | DNA Labs UAE
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 (Available daily from 8 AM to 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by qualified genetics professionals.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The CHST14 Gene Genetic Test is a definitive molecular diagnostic tool designed to identify pathogenic variants in the CHST14 gene, which are responsible for Ehlers-Danlos Syndrome, musculocontractural type 1 (mcEDS-CHST14), a rare autosomal recessive connective tissue disorder. This advanced Next Generation Sequencing assay delivers comprehensive coding-region analysis with unmatched precision, enabling early diagnosis, informed clinical management, and accurate genetic counselling for at-risk families across the UAE.
| Feature | Our Test (NGS โ CHST14) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; Full coding region plus splice-site analysis | ~95% Sensitivity; Limited to targeted exon-only analysis |
| Method | Next Generation Sequencing (NGS) with high-depth coverage (>100x) | Sanger (Chain-Termination) Sequencing; lower throughput |
| Speed | 3 to 4 Weeks (comprehensive bioinformatics pipeline) | 4 to 6 Weeks (limited scalability) |
| Sample Flexibility | Whole Blood, Extracted DNA, or FTA Card (single drop) | Whole Blood or Extracted DNA only; no FTA card option |
| Regulatory Compliance | Full UAE PDPL, Federal Law No. 2 of 2019, Federal Decree-Law No. 4 of 2016 | Variable; may not meet UAE-specific mandates |
Pre-Test Requirements
A detailed clinical history of the patient undergoing the CHST14 Gene Ehlers-Danlos Syndrome, musculocontractural type 1 Genetic Test is required. A genetic counselling session is mandatory to draw a pedigree chart documenting all family members affected by or suspected of carrying pathogenic CHST14 gene variants. This session ensures accurate risk assessment and informed consent.
Accepted Sample Types: Whole Blood (collected in EDTA tube), Extracted DNA (minimum concentration: 50 ng/ยตL), or One Drop of Blood on an FTA Card (properly dried and sealed). All samples must be accompanied by a fully completed test requisition form and a copy of the patient's Emirates ID. Cold-chain transport (2ยฐCโ8ยฐC) is maintained throughout the collection and logistics process per ISO 9001:2015 protocols.
Physician Insight & Safety Protocols
"From a clinical genetics perspective, this CHST14 NGS test offers definitive molecular confirmation for suspected musculocontractural EDS, yet results must be interpreted alongside physical examination findings, family pedigree analysis, and multi-system clinical assessment. A negative result does not exclude other EDS subtypes, and a positive finding warrants referral to a multidisciplinary team encompassing dermatology, cardiology, and orthopaedics for coordinated care. Genetic testing carries profound implications โ pre- and post-test genetic counselling is essential to fully understand the scope, limitations, and psychosocial impact of this analysis."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
โ Medication & Clinical Advisory
Do not alter or discontinue any prescribed medication โ including analgesics, antihypertensives, or physical therapy regimens โ based solely on the results of this genetic test without first consulting your treating physician. All clinical decisions must be guided by a qualified healthcare provider who can integrate genetic findings with the full clinical picture.
โ Patient Safety: Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Sample Collection
- Recent blood transfusion within the last 14 days (may cause chimerism and false results).
- Active systemic infection with high-grade fever (>38.5ยฐC) at the time of collection.
- Inability to provide informed consent; for minors, lack of parental or legal guardian consent as mandated by UAE Federal Law No. 2 of 2019.
- Hemodynamically unstable patients requiring urgent medical intervention.
- Known heparin-induced thrombocytopenia (for whole blood draws) โ consult the laboratory for alternative sample types.
Emergency Red Flags โ Seek Immediate Medical Attention
- Sudden, severe joint dislocation with signs of neurovascular compromise (numbness, pallor, absent pulse).
- Acute-onset chest pain with shortness of breath (possible spontaneous pneumothorax).
- Sudden, severe abdominal or flank pain (possible arterial or hollow organ rupture).
- New-onset focal neurological deficits or sudden visual disturbances.
- Uncontrolled bleeding or extensive ecchymosis following minimal trauma.
If you experience any of the above symptoms, proceed to the nearest emergency department immediately. This genetic test is an elective diagnostic procedure and does not replace emergency medical evaluation.
Patient FAQ & Clinical Guidance
1. What is the CHST14 gene and how does it relate to Ehlers-Danlos Syndrome?
The CHST14 gene encodes the carbohydrate sulfotransferase 14 enzyme, which is essential for the proper sulfation of dermatan sulfate proteoglycans โ a critical structural component of connective tissues throughout the body. Biallelic pathogenic variants in CHST14 cause musculocontractural Ehlers-Danlos Syndrome type 1 (mcEDS-CHST14), a rare autosomal recessive disorder characterized by progressive joint contractures, characteristic craniofacial features, skin hyperextensibility and fragility, and multi-system involvement. Our NGS test sequences the entire CHST14 coding region to detect single nucleotide variants, small insertions or deletions, and splice-site mutations with diagnostic-grade accuracy.
2. How long does it take to receive results and what does the report include?
Your CHST14 Genetic Test report is delivered within 3 to 4 weeks from sample accessioning and includes a definitive molecular interpretation of all detected variants classified according to ACMG/AMP guidelines, zygosity status, and clinical correlation with musculocontractural EDS phenotype. The report is reviewed and signed by a board-certified clinical geneticist.
3. Is home collection available across all Emirates and is my genetic data protected under UAE law?
Yes, our ISO-certified mobile phlebotomy team provides hospital-grade home collection services across all seven Emirates โ including Abu Dhabi, Dubai, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah โ daily from 8:00 AM to 11:00 PM with full cold-chain integrity. Your genetic data is encrypted, stored, and processed exclusively within UAE-sovereign data centers under 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.
UAE Regulatory & Data Privacy Adherence
- โ Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All patient genetic data is encrypted, stored, and processed exclusively within UAE-sovereign data centers. Patient privacy rights are fully protected under federal law.
- โ Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Compliance with digital health data governance, telemedicine standards, and electronic medical record security requirements applicable to genetic testing facilities.
- โ Federal Decree-Law No. 4 of 2016 on Medical Liability: Adherence to clinical testing safety standards, informed consent protocols, and physician accountability frameworks for diagnostic genetic procedures.
- โ DHA Facility License: 1143 | ISO 9001:2015 Certification: INT/EGQ/2509DA/3139
Clinical & Logistical Metadata
| Test Name | CHST14 Gene Ehlers-Danlos Syndrome, Musculocontractural Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA tube), Extracted DNA (โฅ50 ng/ยตL), or FTA Card (single drop) |
| Methodology Used | Next Generation Sequencing (NGS) with high-depth coverage bioinformatics analysis |
| ICD-10-CM Code | Q79.6, Z15.89, Z84.81 |
| LOINC Code | 86294-4 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians