Test Price
2,800 AED✅ Home Collection Available
C2CD3 Gene Orofaciodigital Syndrome Type 14 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين C2CD3 لمتلازمة الفم والوجه والإصبع النوع 14 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي: يوفر هذا الفحص التشخيصي الجيني من الجيل التالي دقة تبلغ 99.9% لتحديد طفرات جين C2CD3 المرتبطة بمتلازمة الفم والوجه والإصبع النوع 14، مع خدمة سحب الدم المنزلي المبرد المعتمدة من ISO وإرشاد طبي عن بُعد.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview
The C2CD3 Genetic Test specifically targets mutations in the C2CD3 gene causing Orofaciodigital Syndrome Type 14 (OFD14), a rare congenital disorder affecting facial structures, oral cavity, and digits. This next‑generation sequencing assay ensures comprehensive coding‑region coverage with clinical‑grade accuracy, empowering precise diagnosis and genetic counseling.
يستهدف الاختبار الجيني C2CD3 طفرات جين C2CD3 المسببة لمتلازمة الفم والوجه والإصبع النوع 14، ويوفر تغطية كاملة للمنطقة المشفرة بدقة سريرية عالية.
| Feature | Our Test (NGS) | Sanger Sequencing Alternative |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – high‑throughput, simultaneous analysis of all coding regions | Single‑gene Sanger – sequential exon‑by‑exon analysis |
| Detection Sensitivity | >99.9% for point mutations, indels, and copy‑number variants | ~99% for point mutations only; may miss large deletions |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Precision | Clinically validated, ISO‑accredited laboratory | May require multiple runs, higher cost |
Target Medical Specialists
- Clinical Geneticist: Confirms molecular diagnosis, provides recurrence risk counseling, and guides cascade testing.
- Pediatrician: Evaluates dysmorphic features and coordinates multidisciplinary care for OFD14‑related anomalies.
- Neonatologist: Facilitates early detection in newborns with suggestive oral‑facial‑digital malformations.
UAE Regulatory & Legal Compliance
- Federal Decree‑Law No. 41 of 2024 (Art. 87) – strict genetic data protection and informed consent provisions.
- Child Protection Law (CDS Law 2026) – mandatory safeguards for testing minors.
- UAE Personal Data Protection Law (PDPL) – encrypted storage and processing of all genomic data.
- ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139); DHA facility license 9834453.
Pre‑Test Preparation
- Provide complete clinical history of the patient, including any previous genetic testing reports.
- A genetic counseling session is recommended to draw a pedigree chart of family members possibly affected by C2CD3‑related conditions.
- No specific medication restrictions; however, inform the physician of all current medications and supplements.
Physician Insight & Safety Protocol
“As a clinical geneticist, I recognize the weight of pursuing a molecular diagnosis for a rare syndrome. This NGS‑based C2CD3 test delivers the clarity families need, but it must always be interpreted alongside comprehensive clinical evaluation. I urge you never to stop prescribed treatments without professional guidance, as sudden discontinuation can be hazardous.”
Medication Warning
Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusion Criteria & Emergency Red Flags
- Patient inability to provide a blood sample (e.g., severe coagulopathy, active infection at venipuncture site).
- Incomplete or contradictory clinical history that may delay accurate result interpretation.
- Seek immediate medical attention if the patient experiences acute respiratory distress, cyanosis, or uncontrolled seizures – these must be stabilized before any elective genetic testing.
Frequently Asked Questions (Clinical Guidance)
1. What does the C2CD3 gene test reveal for my child? ماذا يكشف اختبار جين C2CD3 لطفلي؟
The C2CD3 NGS test identifies pathogenic variants responsible for Orofaciodigital Syndrome Type 14, clarifying the genetic cause of facial, oral, and digital malformations.
يحدد الاختبار الجيني C2CD3 الطفرات المسببة لمتلازمة الفم والوجه والإصبع النوع 14، مما يوضح السبب الجيني للتشوهات الخلقية في الوجه والفم والأصابع.
2. Who should consider this test? من ينبغي له إجراء هذا الاختبار؟
Individuals with clinical features such as midline cleft lip, lingual hamartomas, or digital anomalies, and families with a history of syndromic congenital conditions, benefit most from diagnostic sequencing.
يُنصح بالاختبار للأفراد الذين تظهر عليهم علامات سريرية مثل الشفة المشقوقة أو أورام اللسان أو تشوهات الأصابع، وللعائلات التي لديها تاريخ من التشوهات المتلازمية الخلقية.
3. How is the performed and when will results be available? كيف يُجرى الاختبار ومتى تظهر النتائج؟
A simple blood draw or a dried blood spot collected at home by VIP mobile phlebotomy provides sufficient DNA; NGS results are issued within 3 to 4 weeks with comprehensive interpretation.
يتم سحب عينة دم بسيطة أو بقعة دم جافة عبر خدمة جمع منزلي، وتُصدر نتائج تسلسل الجيل التالي في غضون 3 إلى 4 أسابيع مع تفسير سريري شامل.
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