Test Price
2,800 AED✅ Home Collection Available
CD96 Gene C Syndrome NGS Test in UAE | AED 2,800 | DNA Labs Dubai
Executive Summary & Core Metrics
This next-generation sequencing (NGS) test interrogates the complete coding region of the CD96 gene to identify pathogenic variants causative of autosomal dominant C syndrome (Opitz trigonocephaly). Early molecular confirmation enables targeted paediatric management, surgical planning for craniofacial anomalies, and informed genetic counselling. All analysis is performed under ISO 9001:2015 accredited protocols with orthogonal Sanger confirmation.
Test Overview & Methodology
The CD96 gene encodes a transmembrane immunoglobulin superfamily receptor involved in cell adhesion and immune regulation. Pathogenic variants in CD96 disrupt normal craniofacial development, producing the classic triad of trigonocephaly, radial ray defects, and variable intellectual disability. This targeted NGS assay sequences all coding exons plus flanking intronic regions with a minimum depth of 100x, detecting single-nucleotide variants and small insertions/deletions. All clinically significant findings are confirmed by Sanger sequencing.
| Feature | Our CD96 NGS Test | Sanger Sequencing Only |
|---|---|---|
| Methodology | Targeted NGS (Illumina) + Sanger confirmation | Single-gene Sanger sequencing |
| Coverage / Sensitivity | >99.9% for SNVs & indels, 100x depth | ~99% for targeted exons limited to known regions |
| Turnaround Time | 3–4 weeks from sample receipt | 5–8 weeks typical |
| Bioinformatics | ACMG classification with current variant databases | Manual review only |
| Price | AED 2,800 (insurance eligible) | Often higher, limited coverage |
Physician Insight & Safety Protocols
“A positive CD96 variant establishes a definitive molecular diagnosis for C syndrome, but the result must be correlated with clinical features such as trigonocephaly, radial ray anomalies, and developmental history. I recommend that families review findings jointly with a paediatric geneticist and construct a three-generation pedigree, as variant interpretation continues to evolve with population databases and functional studies.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Exclusion Criteria & Emergency Red Flags
- No blood draw if the patient has a known severe coagulopathy or active infection at the phlebotomy site.
- For minors, collection requires advance written parental or guardian consent and a paediatric genetic counselling session, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- If the patient exhibits acute respiratory distress, uncontrolled seizures, or severe dehydration on the appointment day, seek emergency care immediately and defer the test until stabilised.
- Our mobile team will not collect if standard cold-chain conditions cannot be maintained, such as ambient temperature exceeding 35°C outside validated transport containers.
Patient FAQ & Clinical Guidance
1. How accurate is the CD96 NGS test for diagnosing C syndrome?
Our NGS test achieves 99.9% diagnostic sensitivity by sequencing all CD96 coding exons with deep 100x coverage, confirmed by Sanger sequencing for any detected pathogenic variant. The test detects single-nucleotide variants and small insertions or deletions, but rare deep intronic or large rearrangements may require complementary chromosomal microarray or whole-exome sequencing. A negative result substantially reduces the likelihood of C syndrome, though clinical correlation remains essential.
2. How is the sample collected for CD96 gene testing?
We collect a standard peripheral whole blood sample via our VIP mobile phlebotomy service using temperature-controlled cold-chain transport. For paediatric patients, an FTA card dried blood spot may be used as an alternative. The collection team is available daily from 8 AM to 11 PM across all UAE emirates. A parent or guardian must be present for children under 18 years, and a brief clinical history is taken prior to venipuncture.
3. Is pre-test genetic counselling mandatory and how does it work?
Yes, pre-test counselling is mandatory under Federal Decree-Law No. 4 of 2016 on Medical Liability to ensure informed consent and privacy protection. A DHA-licensed genetic counsellor conducts a secure telehealth session that includes a three-generation pedigree chart, explanation of autosomal dominant inheritance of C syndrome, and discussion of potential implications for family members. This session is included in the AED 2,800 package and is scheduled before sample collection.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance 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 genetic data are encrypted in transit and at rest, access is restricted to authorised clinical personnel, and no information is shared with third parties without explicit patient consent. Clinical safety and consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification and is licensed by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | CD96 Gene C Syndrome NGS Test |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA) or dried blood spot (FTA card) – VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily 8 AM to 11 PM |
| Methodology Used | Targeted next-generation sequencing (Illumina) with orthogonal Sanger confirmation |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 81261-8 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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