Test Price
2,800 AED✅ Home Collection Available
EVC2 Gene (Ellis‑van Creveld Syndrome) Genetic Test – Dubai, UAE
Executive Summary & Core Metrics
EVC2 Gene Sequencing – Ellis‑van Creveld Syndrome Confirmation
- Accuracy Guarantee: 99.9% diagnostic sensitivity for EVC2 pathogenic variants via ISO‑accredited Next‑Generation Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM – 11 PM).
- Clinical Guidance: Complimentary telephonic post‑test counselling by a DHA‑licensed Consultant Medical Geneticist.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The EVC2 gene test utilises advanced Next‑Generation Sequencing (NGS) to detect pathogenic variants responsible for Ellis‑van Creveld syndrome, a rare autosomal recessive skeletal dysplasia characterised by short stature, postaxial polydactyly, and congenital heart defects. Comprehensive coverage of all coding exons, exon‑intron boundaries, and copy number variants ensures a definitive molecular diagnosis for affected individuals and reliable carrier screening for at‑risk family members.
| Feature | Our Test (NGS EVC2) | Closest Alternative (Sanger Sequencing Only) |
|---|---|---|
| Precision | Full gene coverage including exon‑intron boundaries, CNV detection | Limited to known point mutations; misses large deletions/duplications |
| Methodology | Next‑Generation Sequencing (NGS), PCR‑free library prep | Capillary Sanger sequencing |
| Turnaround Time | 3–4 Weeks (complete clinical report) | 4–6 Weeks (excludes reflex testing) |
Physician Insight & Safety Protocols
“A molecular diagnosis of Ellis‑van Creveld syndrome through comprehensive EVC2 sequencing provides families with precise recurrence risk estimates and enables targeted cardiac surveillance. Pathogenic variants must be interpreted alongside clinical echocardiography and skeletal survey findings. A negative sequencing result does not exclude all genetic aetiologies; clinical correlation with a Consultant Medical Geneticist is essential before any reproductive or therapeutic decisions are made.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
⚠️ Do Not Discontinue Prescribed Therapy
Never alter or stop any current medication regimen without explicit guidance from your treating physician. Genetic test results are intended to inform long‑term management planning, not to replace acute clinical decisions.
Safety Exclusion Criteria & Emergency Red Flags
- Sample Collection Exclusions: Blood transfusion within the preceding 2 weeks; active infection or systemic inflammation that may compromise DNA yield; inability to provide informed consent (guardian consent required for minors per Federal Decree‑Law No. 4 of 2016 on Medical Liability).
- Test Limitations: This assay is not validated for deep intronic variants, mitochondrial genome alterations, or multi‑gene panel analysis. Pre‑test genetic counselling is mandatory.
- ER Red Flags: Seek immediate emergency care if the patient develops severe respiratory distress, cyanosis, or acute cardiac symptoms in the setting of known Ellis‑van Creveld syndrome.
Patient FAQ & Clinical Guidance
1. What is the EVC2 gene test used for?
This advanced genetic test detects disease‑causing variants in the EVC2 gene to confirm a diagnosis of Ellis‑van Creveld syndrome, guide cardiac and orthopaedic surveillance, and provide accurate recurrence risk information for family planning.
2. How is the sample collected and what should I expect?
A DHA‑licensed phlebotomist visits your home for a standard peripheral blood draw (EDTA tube) or a painless buccal swab. The sample is transported under ISO‑certified cold‑chain conditions to our CAP‑accredited laboratory. No fasting or special preparation is required.
3. When will I receive results and what support is included?
A comprehensive clinical report is delivered within 3–4 weeks. Every patient receives complimentary telephonic post‑test counselling with a Consultant Medical Geneticist to interpret the findings, discuss hereditary implications, and coordinate multidisciplinary care.
UAE Regulatory & Data Privacy Adherence
UAE Federal Compliance Framework
- Data Protection: All genetic data is processed in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Governance: Electronic health records and genomic data are safeguarded under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety & Consent: Patient consent, specimen handling, and medical liability adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
ISO 9001:2015 Certified | Cert: INT/EGQ/2509DA/3139
Clinical & Logistical Metadata
| Test Name | EVC2 Gene (Ellis‑van Creveld Syndrome) Genetic Test – NGS Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (Complete Clinical Report) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Buccal Swab |
| Methodology Used | Next‑Generation Sequencing (NGS) – PCR‑free Library Preparation |
| ICD-10-CM Code | Q77.6 |
| LOINC Code | 94056-6 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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