Test Price
2,800 AED✅ Home Collection Available
CCDC8 Gene Sequencing for 3-M Syndrome Type 3 (NGS) in Dubai, UAE | AED 2,800
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS 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 interpretation support by certified genetic counsellors.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
CCDC8 gene sequencing identifies pathogenic variants causing 3-M syndrome type 3 – a rare autosomal recessive disorder characterised by pre- and postnatal growth retardation and distinctive facies. This targeted NGS test offers higher depth and analytical sensitivity than whole-exome panels, delivering definitive molecular confirmation for dysmorphology evaluation.
| Feature | Our Test – CCDC8 NGS | Closest Alternative – Whole Exome Sequencing |
|---|---|---|
| Precision | Single-gene deep sequencing (500× average depth), detects small indels and CNVs | Genome-wide screening with variable coverage; may miss deep intronic variants |
| Methodology | Targeted NGS + Sanger validation of all reported variants | Exome capture + NGS; requires secondary confirmation |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
Consultant Medical Genetics Lina Osama Zaki Quteineh, DHA Registration 9294403: “A targeted CCDC8 test provides definitive molecular confirmation, but results must be correlated with a three-generation pedigree and clinical dysmorphology. A negative result does not exclude 3-M syndrome if other genetic mechanisms exist; always discuss findings with a clinical geneticist for comprehensive risk assessment.”
Advisory Notice
Do not discontinue or adjust any prescribed medication based on genetic test results without consulting your treating physician.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Prenatal diagnosis without prior genetic counselling; asymptomatic minors lacking informed parental consent; patients unable to provide a complete three-generation family history.
- ER Red Flags: Sudden onset of severe respiratory distress, apnoeic episodes, or acute failure to thrive in a child suspected of 3-M syndrome – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What distinguishes this CCDC8 NGS test from broad genetic panels?
This targeted test achieves 500× average depth on the entire CCDC8 coding region, ensuring 99.9% sensitivity for single-nucleotide variants, small insertions, deletions, and copy-number changes – a precision not matched by broad exome panels.
2. How is the sample collected for this genetic test?
A certified phlebotomist draws 2–3 mL of whole blood during a VIP home visit. FTA card collection is available. Prior genetic counselling and a detailed clinical history are mandatory to ensure accurate variant interpretation.
3. Can my health insurance cover the cost of this test?
Direct billing to all major UAE insurers is available. Send your policy number and request via WhatsApp to +971 54 548 8731. Our team will confirm coverage within 2 hours before your appointment.
UAE Regulatory & Data Privacy Adherence
UAE Regulatory Compliance: This service is conducted in strict accordance with 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. All processing is performed under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | CCDC8 Gene Sequencing for 3-M Syndrome Type 3 (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (2–3 mL) or FTA Card |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with Sanger validation |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 76479-2 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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