Test Price
2,800 AED✅ Home Collection Available
CHST14 Gene Ehlers-Danlos Syndrome, Musculocontractural Type 1 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين CHST14 لمتلازمة إهلرز-دانلوس النوع العضلي الانقباضي 1 عبر التسلسل الجيني من الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary | ملخص تنفيذي
يقدم هذا الفحص الجيني المتقدم تحليل تسلسل الجيل التالي (NGS) لجين CHST14 للكشف عن متلازمة إهلرز-دانلوس من النوع العضلي الانقباضي 1. نضمن دقة تشخيصية بنسبة 99.9% عبر مختبرات معتمدة بموجب الأيزو 9001:2015، مع خدمة سحب الدم المنزلي المبرد وخدمة الاستشارات الطبية الهاتفية بعد الفحص. امتثال كامل للمرسوم بقانون اتحادي رقم 41 لسنة 2024 وقانون حماية البيانات الشخصية في الإمارات.
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8:00 AM to 11:00 PM daily).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by qualified professionals.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Overview
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. يعتمد هذا الفحص على تقنية التسلسل الجيني المتقدم لتحديد الطفرات المسببة للمرض بدقة متناهية.
| Feature | Our Test (NGS – 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 Decree-Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors) | Variable; may not meet UAE-specific mandates |
Physician Insight & Safety Protocol
"As a clinician, I want to emphasize that this CHST14 NGS test provides critical molecular confirmation for suspected musculocontractural EDS, yet it must always be interpreted within the full context of your physical examination, family history, and multi-system clinical presentation. A negative result does not rule out other EDS subtypes, and a positive result should prompt referral to a multidisciplinary team including dermatology, cardiology, and orthopaedics for comprehensive care coordination. Genetic test results carry profound implications — please ensure you have pre- and post-test genetic counselling to fully understand the scope and limitations of this analysis."
— Dr. Prabhakar Reddy, Clinical Pathology & Laboratory Medicine, DHA License: 61713011
⚠ Medication Warning: Do not discontinue any prescribed medication, including analgesics, antihypertensives, or physical therapy regimens, based solely on the results of this genetic test without consulting your treating physician. Clinical decisions must always be guided by a qualified healthcare provider.
🛑 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 (>38.5°C) at the time of collection.
- Inability to provide informed consent; for minors, lack of parental/legal guardian consent as mandated by UAE CDS Law 2026.
- Hemodynamically unstable patients requiring urgent medical intervention.
- Known heparin-induced thrombocytopenia (for whole blood draws) — consult the laboratory for alternative sample types.
Emergency Red Flags — 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.
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/µL), 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 (2°C–8°C) is maintained throughout the collection and logistics process per ISO 9001:2015 protocols.
UAE Regulatory & Legal Compliance
- ✔ Federal Decree-Law No. 41 of 2024 (Article 87): Full compliance with clinical laboratory licensing, reporting standards, and quality assurance mandates applicable to genetic testing facilities operating within the United Arab Emirates.
- ✔ CDS Law 2026 (Minors): Stringent adherence to child data security provisions governing the collection, storage, and processing of genetic information from individuals under 18 years of age. Parental or legal guardian consent is mandatory.
- ✔ UAE PDPL (Personal Data Protection Law): All patient genetic data is encrypted, stored, and processed exclusively within UAE-sovereign data centers. Patient privacy rights are fully protected under federal law.
- ✔ DHA Facility License: 9834453 | ISO 9001:2015 Certification: INT/EGQ/2509DA/3139
Patient FAQ & Clinical Guidance
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 — 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/deletions, and splice-site mutations with diagnostic-grade accuracy.
How long does it take to receive results and what does the report include? | كم يستغرق الحصول على النتائج وما محتوى التقرير؟
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 2026 guidelines, zygosity status, and clinical correlation with musculocontractural EDS phenotype.
يتم تسليم تقرير الفحص الجيني في غضون 3 إلى 4 أسابيع من استلام العينة، ويتضمن تفسيرًا جزيئيًا شاملاً لجميع المتغيرات الجينية المكتشفة وفقًا لأحدث إرشادات الكلية الأمريكية لعلم الوراثة الطبية.
Is home collection available across all Emirates and is my genetic data protected under UAE law? | هل تتوفر خدمة السحب المنزلي في جميع الإمارات وهل بياناتي الجينية محمية؟
Yes, our ISO-certified mobile phlebotomy team provides hospital-grade home collection services across all seven Emirates — including Abu Dhabi, Dubai, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah — daily from 8:00 AM to 11:00 PM with full cold-chain integrity.
نعم، نقدم خدمة سحب الدم المنزلي المعتمدة في جميع إمارات الدولة السبع يوميًا من الساعة 8 صباحًا حتى 11 مساءً، مع ضمان الحماية الكاملة للبيانات الجينية وفقًا لقانون حماية البيانات الشخصية الإماراتي.
Schedule Your CHST14 Genetic Test Today
Confidential, DHA-compliant testing with premium home collection across the UAE.
Primary Clinical Specialists for CHST14-Related Disorders: Dermatologist (connective tissue and skin manifestations) | Clinical Geneticist (molecular diagnosis and counselling) | Sports Medicine Physician (musculoskeletal and joint hypermobility management).
ICD-10-CM Codes (2026): Q79.6 (Ehlers-Danlos syndrome) | Z15.89 (Genetic susceptibility to other disease) | Z84.81 (Family history of carrier of genetic disease).
LOINC: 86294-4 — https://loinc.org/86294-4/
Methodology: Next Generation Sequencing (NGS) with high-depth coverage bioinformatics analysis.
Disclaimer: This page is for informational purposes only and does not constitute medical advice. Always consult a licensed DHA-registered physician for diagnosis and treatment decisions. Genetic results must be interpreted by a qualified clinical geneticist or specialist physician.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians