Test Price
2,800 AED✅ Home Collection Available
KDM6A Gene (Kabuki Syndrome Type 2) DNA Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation included.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The KDM6A Gene Genetic Test detects pathogenic variants in the KDM6A gene associated with Kabuki syndrome type 2, a multi‑system congenital disorder causing intellectual disability, distinctive facial features, and growth anomalies. This test is essential for precise diagnosis, family planning, and tailored clinical management. Next‑Generation Sequencing (NGS) on the Illumina platform delivers full‑gene coverage with copy‑number variant (CNV) analysis, achieving greater than 99.9% analytical sensitivity and specificity.
| Feature | Our NGS Test | Closest Alternative (Targeted Gene Panel) |
|---|---|---|
| Precision | Full‑gene sequencing with CNV analysis, >99.9% analytical sensitivity | Gene panel may miss deep intronic variants; lower CNV detection |
| Methodology | Next‑Generation Sequencing (NGS) – Illumina platform | Targeted NGS panel or Sanger sequencing of selected exons |
| Speed | 3 to 4 Weeks | 3 to 8 Weeks (depending on reflex steps) |
Physician Insight & Safety Protocols
“Interpreting KDM6A variants requires careful correlation with clinical phenotype and family pedigree analysis. This comprehensive NGS test provides clarity for families navigating the diagnostic journey, but results must always be contextualised within the full clinical picture and followed by expert genetic counselling.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Medication Warning
Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusion & Emergency Flags
Exclusion and Emergency Criteria
- Exclusion Criteria: Inability to provide a blood sample or extracted DNA; severe coagulopathy not controlled; inability to give informed consent (guardian consent required as per Federal Decree-Law No. 4 of 2016 on Medical Liability for minors).
- ER Red Flags: If the patient experiences acute neurological deterioration (e.g., new‑onset seizures, loss of consciousness, stroke‑like episodes), seek immediate emergency medical attention before scheduling this genetic test.
- Informed Consent: A detailed pre‑test genetic counselling session is mandatory. The consent form must be signed by the patient or legal guardian prior to specimen collection.
Patient FAQ & Clinical Guidance
1. What is the KDM6A gene and how does it relate to Kabuki syndrome type 2?
Pathogenic variants in the KDM6A gene cause Kabuki syndrome type 2, a genetic disorder affecting multiple organ systems. The KDM6A gene encodes a histone demethylase (UTX) crucial for embryonic development; mutations disrupt epigenetic regulation, leading to the characteristic features including intellectual disability, dysmorphic facies, skeletal abnormalities, and growth retardation. This test sequences the entire gene to identify both single‑nucleotide variants and copy‑number changes.
2. Who should consider taking this KDM6A gene test?
Individuals with clinical features of Kabuki syndrome (intellectual disability, dysmorphic facies, and skeletal anomalies) or family history should consider this genetic test. This includes children with suspected congenital syndromes, adults with undiagnosed neurodevelopmental disorders, and families planning pregnancy when a known KDM6A mutation exists. A genetic counselling session is required to draw a pedigree chart of family members affected before testing.
3. How is the test performed and what is the turnaround time?
A blood sample or extracted DNA is analyzed using Next Generation Sequencing (NGS), with results typically available in 3 to 4 weeks. We accept whole blood (5 mL in EDTA), extracted DNA, or a one‑drop blood spot on an FTA card. After validated NGS on Illumina platforms, bioinformatics analysis identifies pathogenic variants. A comprehensive clinical report is then reviewed by our medical geneticist and released through secure channels.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres to 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 handled with strict confidentiality, and test results are shared only with authorized healthcare providers and the patient or their legal guardian. Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), ensuring the highest standards of quality and data security.
Clinical & Logistical Metadata
| Test Name | KDM6A Gene (Kabuki Syndrome Type 2) DNA Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (5 mL in EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina Platform |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 48002-0 |
| DHA Facility License & Address | DHA License 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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