Test Price
2,800 AED✅ Home Collection Available
KDM6A Gene Kabuki Syndrome Type 2 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across the UAE.
Clinical Guidance: Telephonic post-test genetic counselling provided by Consultant Medical Genetics.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This advanced genetic test sequences the entire KDM6A gene using Next Generation Sequencing (NGS) to detect pathogenic variants causing Kabuki syndrome type 2, a rare congenital multisystem disorder characterized by distinct facial features, intellectual disability, and organ anomalies. The methodology includes full gene sequencing plus copy number variation (CNV) analysis for comprehensive diagnostic accuracy.
| Feature | Our Test (NGS) | Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity | ~95% (misses deep intronic variants) |
| Methodology | Full gene sequencing + copy number analysis via NGS | Exon-by-exon Sanger, limited CNV detection |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks (fragmented) |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that a KDM6A mutation alone does not define the complete clinical picture; correlation with dysmorphology evaluation and developmental assessments is essential. Every result must be integrated into a holistic care plan, and families should be supported with genetic counselling. I am Lina Osama Zaki Quteineh, DHA Registration ID: 9294403.”
Advisory Precautions
Do not discontinue prescribed medication without consulting your treating physician. All medications must be evaluated for potential interference with genetic testing.
Safety Exclusion Criteria & Emergency Red Flags
- Patient must not have received blood transfusion or bone marrow transplant within 30 days prior to blood sample collection.
- Refrain from testing if the patient is acutely ill with fever or uncontrolled infection.
- Seek immediate emergency care if the child shows signs of cardiac arrest, respiratory distress, or severe neurological deterioration.
- Infants with known congenital heart disease must be under close cardiological monitoring during any phlebotomy.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of this KDM6A gene test?
This NGS-based test provides 99.9% diagnostic sensitivity, detecting point mutations, small indels, and copy number variations across the entire KDM6A coding region.
2. How is the sample collected and is home service available?
A certified phlebotomist collects a small blood sample, an isolated DNA sample, or a single drop on an FTA card. VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection is available daily from 8 AM to 11 PM across all emirates.
3. Are the results confidential and compliant with UAE law?
Yes, all genetic data is handled under 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. Patient consent and safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
4. What is the turnaround time for results?
The standard turnaround time is 3–4 weeks from sample receipt at the laboratory, allowing for comprehensive sequencing and clinical validation.
5. Is pre-test genetic counselling required?
Yes, we recommend pre-test counselling with a Consultant Medical Genetics to discuss the implications, limitations, and potential outcomes of the test. Post-test counselling is also provided telephonically.
UAE Regulatory & Data Privacy Adherence
Legal Compliance: This test is performed 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. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Facility Accreditation: DHA Licensed Facility #1143, ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | KDM6A Gene Kabuki Syndrome Type 2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood, isolated DNA, or FTA card (non-invasive home collection available) |
| Methodology Used | Next Generation Sequencing (NGS) with full gene coverage and CNV analysis |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 94065-1 |
| DHA Facility License & Laboratory Address | License #1143 – DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians