Test Price
2,800 AED✅ Home Collection Available
KMT2D Gene (Kabuki Syndrome Type 1) Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing (Cert: INT/EGQ/2509DA/3139) with full gene coverage.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across Dubai and all UAE emirates.
- Clinical Guidance: Complimentary telephonic post-test genetic counselling session provided by a DHA-licensed consultant medical geneticist.
- Insurance: Direct billing verification available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This comprehensive NGS-based assay analyses the entire coding region and exon-intron boundaries of the KMT2D gene to diagnose Kabuki syndrome type 1, an autosomal dominant disorder marked by distinct facial features, growth retardation, and intellectual disability. A definitive molecular result enables targeted surveillance for associated cardiac, renal, and immunological comorbidities and provides accurate recurrence risk counselling for family planning.
| Feature | Our Test (KMT2D NGS) | Closest Alternative (Sanger/MLPA) |
|---|---|---|
| Precision | Full gene sequencing plus deletion and duplication (CNV) detection in a single assay | Targeted mutation hotspots only; novel and structural variants missed |
| Methodology | Next-generation sequencing (NGS) with >100× read depth covering entire coding region and splice sites | Sanger sequencing or MLPA performed as separate, sequential tests |
| Turnaround Time | 3 to 4 weeks | 6 to 8 weeks when combining methods |
Physician Insight & Safety Protocols
"This NGS-based assay provides definitive molecular confirmation of Kabuki syndrome type 1 when clinical suspicion is present. A negative result does not fully exclude atypical presentations; therefore, variant interpretation must always be correlated with a detailed dysmorphology assessment, three-generation pedigree analysis, and family history. Post-test genetic counselling is essential for all families."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication, supplement, or therapy without explicit instruction from your treating physician. This genetic test does not assess drug metabolism or pharmacogenetic response.
Safety Exclusion Criteria & Emergency Red Flags
- Active systemic infection or febrile illness — postpone collection until clinically resolved.
- Known coagulopathy or severe thrombocytopenia (platelets <50,000/µL) — liaise with haematologist before sampling.
- History of severe adverse reaction to venipuncture or to topical anaesthetics used during collection.
- Emergency Alert: If the child experiences sudden seizures, unresponsive episodes, or respiratory difficulty, proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of KMT2D gene testing?
This test identifies pathogenic and likely pathogenic variants in the KMT2D gene, confirming a diagnosis of Kabuki syndrome type 1. A positive result enables early intervention through cardiac, renal, and immunological screening, accurate recurrence risk counselling for family planning, and avoidance of unnecessary alternative diagnostic workups.
2. How is the sample collected for this genetic analysis?
A DHA-licensed phlebotomist collects 2 to 3 mL of whole blood in an EDTA tube during a VIP home visit strictly within the 8 AM to 11 PM window. Alternatively, a single dried blood spot on an FTA card is accepted. Extracted DNA from pre-existing clinical samples can also be submitted. All specimens are transported under temperature-controlled cold-chain logistics directly to our ISO-certified laboratory.
3. What is the turnaround time and total cost in the UAE?
The final clinical report is delivered within 3 to 4 weeks from sample receipt. The all-inclusive fee of 2,800 AED covers the full NGS laboratory analysis, a pre-test genetic counselling session for pedigree drawing, and a post-test telephonic interpretation of results by a consultant medical geneticist. Direct billing and insurance pre-authorization requests can be initiated via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Governance: Electronic health records and diagnostic data handling conform to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability & Patient Consent: Clinical testing safety, informed consent, and patient rights are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | KMT2D Gene (Kabuki Syndrome Type 1) Sequencing and CNV Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or FTA card dried blood spot — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) with >100× read depth, full coding region and exon-intron boundary coverage, plus CNV detection |
| ICD-10-CM Code | Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance) |
| LOINC Code | 92875-3 (KMT2D gene mutations found [Identifier] in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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