Test Price
2,800 AED✅ Home Collection Available
RAD21 Gene Cornelia de Lange Syndrome Type 4 Genetic Test in UAE | 2800 AED | DHA Licensed Molecular Diagnostics
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity for single nucleotide variants, small insertions/deletions, and copy number variants via ISO 9001:2015 certified NGS workflow.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Oversight: Post-test genetic counselling and result interpretation provided by a DHA-licensed Consultant Medical Genetics specialist.
- Insurance Verification: Direct billing confirmation via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The RAD21 Gene Cornelia de Lange Syndrome Type 4 Genetic Test is a comprehensive molecular diagnostic assay that performs next-generation sequencing of the entire coding region and splice-site junctions of the RAD21 gene. This test detects pathogenic and likely pathogenic variants responsible for Cornelia de Lange syndrome type 4, a rare autosomal dominant disorder characterised by distinctive craniofacial features, growth retardation, limb abnormalities, and intellectual disability. The results provide actionable information for clinical management, recurrence risk assessment, and family cascade testing.
Our NGS-based platform achieves deep coverage uniformity across all exons, enabling detection of single-nucleotide variants, small insertion-deletion mutations, and exon-level copy number variations. Bioinformatics analysis utilises population allele frequency databases, in silico prediction tools, and ACMG/AMP variant classification guidelines to ensure diagnostic robustness.
| Feature | DNA Labs UAE – NGS Premium | Alternative Approach (Targeted Sanger) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – full gene analysis with CNV detection | Single-exon Sanger sequencing, no CNV calling |
| Diagnostic Sensitivity | 99.9% for SNVs, indels, and CNVs | Approximately 90% (misses deep intronic and large rearrangements) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Clinical Support | Pre- and post-test genetic counselling included | Often limited to written report only |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403)
“As a clinical geneticist specialising in rare developmental disorders, I emphasise that RAD21 gene sequencing results must always be interpreted in the context of a comprehensive dysmorphology evaluation and family history. Cornelia de Lange syndrome type 4 presents with a broad phenotypic spectrum; a molecular finding alone does not replace expert clinical correlation. All patients should receive pre-test counselling to discuss potential outcomes, including variants of uncertain significance, and post-test counselling to understand implications for family members. Please consult your referring physician before initiating any management changes based on this testing.”
Safety Advisory & Exclusion Criteria
This test is intended for diagnostic confirmation and genetic counselling purposes only. It does not replace clinical examination or routine medical follow-up.
- Exclusion Criteria: Acute febrile illness, known coagulopathy without haematology clearance, inability to provide informed consent, pregnancy without prior genetic counselling referral, and minors without explicit legal guardian consent as required by UAE federal regulations.
- Emergency Red Flags: If phlebotomy-site swelling, persistent bleeding, or signs of infection develop, seek immediate medical attention.
Patient FAQ & Clinical Guidance
1. What is the RAD21 gene and how does it cause Cornelia de Lange syndrome type 4?
The RAD21 gene encodes a key component of the cohesin protein complex, which is essential for proper chromosome segregation, DNA repair, and gene expression regulation during development. Pathogenic variants in RAD21 disrupt cohesin function, leading to the clinical features of Cornelia de Lange syndrome type 4 — including prenatal-onset growth restriction, characteristic facial dysmorphism (synophrys, long eyelashes, depressed nasal bridge), limb reduction defects, and variable intellectual disability. This condition follows an autosomal dominant inheritance pattern with variable expressivity.
2. How is the sample collected and what should I expect during the procedure?
The test requires a standard peripheral whole blood sample (3–5 mL in an EDTA tube) or a dried blood spot on an FTA card. Our trained phlebotomist performs the collection at your preferred location through our VIP Mobile Phlebotomy service, available daily from 8 AM to 11 PM. The procedure is minimally invasive, takes approximately 10 minutes, and requires no specific preparation. Temperature-controlled cold-chain transport ensures sample integrity from collection to our ISO 9001:2015 certified laboratory.
3. What is the turnaround time and total cost for this genetic test?
Results are typically available within 3 to 4 weeks from sample receipt. The all-inclusive price is 2,800 AED, covering NGS library preparation, sequencing, comprehensive bioinformatics analysis, variant interpretation according to ACMG/AMP guidelines, and a detailed clinical report. Pre-test and post-test genetic counselling sessions conducted by our Consultant Medical Genetics are included in this fee. Direct billing with major UAE insurers can be verified through WhatsApp at +971 54 548 8731.
4. Who should consider this RAD21 gene test and why is genetic counselling important?
This test is indicated for individuals with clinical suspicion of Cornelia de Lange syndrome, particularly those presenting with characteristic facial features, growth delay, limb anomalies, and developmental delay when first-tier testing has not identified a genetic cause. It is also appropriate for family members of individuals with a known pathogenic RAD21 variant who wish to understand their carrier status. Genetic counselling before and after testing is essential to discuss potential findings — including variants of uncertain significance — and to explore reproductive options, cascade testing, and psychosocial implications.
UAE Regulatory & Data Privacy Adherence
Federal & Local Compliance Framework
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly adheres to:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All patient genetic data is encrypted, access-controlled, and processed exclusively for diagnostic purposes with explicit informed consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our digital infrastructure meets mandatory cybersecurity and health information exchange standards, ensuring secure transmission of electronic medical records and test requisitions.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical procedures, including genetic sample collection and result disclosure, are conducted under established medical liability frameworks, with documented patient consent and adherence to standards of care.
- ISO 9001:2015 Certification (Cert: INT/EGQ/2509DA/3139): Our quality management system undergoes annual surveillance audits to maintain compliance with international diagnostic laboratory standards.
Clinical & Logistical Metadata
| Test Name | RAD21 Gene Cornelia de Lange Syndrome Type 4 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) – Peripheral specimen; VIP Mobile Phlebotomy available |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene analysis with CNV detection |
| ICD-10-CM Code | Q87.1, Q87.81 |
| LOINC Code | 81265-0 |
| 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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