Test Price
2,800 AED✅ Home Collection Available
HDAC8 Gene Cornelia de Lange Syndrome Type 5 Genetic Test (NGS) in UAE | 2,800 AED
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited laboratory processing.
Premium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain and VIP Mobile Phlebotomy, ensuring sample integrity from your doorstep.
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation provided by our expert genetic counsellors.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Overview
This test utilises Next-Generation Sequencing (NGS) to thoroughly analyse the entire coding region of the HDAC8 gene, detecting pathogenic variants that cause Cornelia de Lange Syndrome type 5 (CdLS5). It provides a definitive molecular diagnosis for patients presenting with characteristic multisystem features, enabling personalised management and family planning.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision / Method | Single-nucleotide variant & indel detection >99.9% sensitivity; covers all exons with uniform depth | Targeted analysis of limited regions; lower sensitivity for low-level mosaicism |
| Turnaround Time | 3–4 Weeks | 4–5 Weeks (single gene focus) |
| Comprehensive Reporting | Full clinical interpretation with ACMG classification and genetic counselling support | Variant description without integrated clinical guidance |
| DHA Compliance | Fully aligned with UAE PDPL and health data protection frameworks | Variable regulatory alignment |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I understand that pursuing genetic testing for a rare condition like Cornelia de Lange Syndrome involves careful consideration. The NGS analysis of HDAC8 provides high-resolution variant detection, but results must always be correlated with clinical findings, family history, and physical examination. I strongly recommend a post-test consultation with your genetic counselor to fully understand implications for management and family planning.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
⚠️ Important Advisory
Do not stop or alter any prescribed medications without consulting your treating physician. This genetic test is a diagnostic aid and does not replace clinical evaluation or emergency care.
Safety & Exclusion Criteria
- Exclusion Criteria for Blood Collection: Active bleeding disorders, severe anaemia, or acute febrile illness. Home phlebotomy is performed by DHA-licensed professionals under aseptic conditions.
- Emergency Red Flags: If you or the patient experience sudden worsening of existing symptoms, severe difficulty breathing, seizures, or loss of consciousness, seek immediate emergency medical care and do not wait for test results.
- Minor Consent: Testing of minors (under 18 years) strictly follows UAE Federal Law and the Medical Liability framework (Federal Decree-Law No. 4 of 2016). Mandatory genetic counselling and legal guardian consent are required before sample collection.
Patient FAQ & Clinical Guidance
1. What is the HDAC8 gene Cornelia de Lange syndrome type 5 test and why is it done?
Snippet: This genetic test sequences the HDAC8 gene to detect mutations causing Cornelia de Lange syndrome type 5, aiding precise diagnosis.
It is indicated for individuals with clinical signs such as distinctive facial features, growth retardation, limb abnormalities, and hirsutism, or for family members at risk. The NGS test reads the full coding DNA sequence to identify pathogenic variants, confirming CdLS5 and differentiating it from other CdLS subtypes.
2. How accurate is this Genetic Test and how long does it take?
Snippet: With 99.9% analytical sensitivity and specificity, our NGS delivers reliable results within 3 to 4 weeks.
Our ISO-accredited laboratory follows stringent quality control, ensuring every nucleotide is interrogated multiple times. The turnaround time includes DNA extraction, library preparation, sequencing, bioinformatic analysis, and final clinical report signed by a certified geneticist.
3. What sample is required and is home collection available in the UAE?
Snippet: A single blood sample or dried blood spot on FTA card is sufficient, with hospital-grade home collection across UAE.
You may provide a standard venous blood sample (3–5 mL in EDTA tube) or one drop of blood on a special FTA card. Our VIP mobile phlebotomy team visits your home between 8 AM and 11 PM, using temperature-controlled transport to guarantee specimen integrity. All collections comply with UAE PDPL and health authority regulations.
UAE Regulatory & Data Privacy Adherence
This service is delivered 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 genetic data is encrypted, stored on secure servers within the UAE, and never shared without explicit consent. Clinical safety and patient consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability. DHA Facility License: 1143. ISO 9001:2015 Certified.
Clinical & Logistical Metadata
| Test Name | HDAC8 Gene Cornelia de Lange Syndrome Type 5 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Coding Region Analysis |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 81247-9 |
| 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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