Test Price
2,800 AED✅ Home Collection Available
KMT2C Gene Developmental Delay (Kleefstra Syndrome 2) NGS Test in UAE
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity – ISO-Accredited NGS Processing
- VIP Mobile Phlebotomy – Hospital-Grade, Cold-Chain Compliant Home Collection (Daily 8 AM – 11 PM)
- Post-Test Clinical Guidance – Telephonic Result Interpretation by Genetic Counselor
- Insurance Verification – Direct Billing Support via WhatsApp +971 54 548 8731
Test Overview & Methodology
The KMT2C single-gene next‑generation sequencing (NGS) test detects pathogenic variants in the KMT2C gene, providing a definitive molecular diagnosis for Kleefstra syndrome 2 – the genetic cause of developmental delay, intellectual disability, and characteristic facial features. High‑depth sequencing covers all exons and exon‑intron boundaries with 100% coding region coverage, ensuring accurate variant identification.
| Feature | KMT2C Single‑Gene NGS (This Test) | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision for KMT2C | 100% coding region coverage with deep intronic junctions | Variable coverage; may miss certain exons |
| Turnaround Time | 3–4 weeks (focused analysis) | 8–12 weeks typical |
| Cost | AED 2,800 – targeted and affordable | AED 4,500–6,000 (higher incidental findings risk) |
| Clinical Actionability | Directly confirms Kleefstra syndrome 2 | May uncover VUS causing uncertainty |
Physician Insight & Safety Protocols
“The KMT2C gene is vital for neurodevelopment; a clear molecular diagnosis ends the diagnostic odyssey and opens doors to targeted early interventions and family planning. Always correlate results with the full clinical picture and consult a medical geneticist for interpretation.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA No. 9294403
Important Advisory
Genetic test results provide diagnostic insight but do not replace ongoing clinical management. Do not alter or discontinue any prescribed medications, therapies, or interventions without consulting the treating physician.
Patient Safety – Exclusion Criteria & Red Flags
- Exclusion: Minors under 18 must have written parental/guardian consent and pre‑test genetic counselling as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Individuals unable to provide a detailed clinical history and/or three‑generation pedigree chart.
- ER Red Flags: Sudden loss of developmental milestones, new‑onset seizures, or acute neurological deterioration – seek emergency medical care immediately; do not wait for test results.
Patient FAQ & Clinical Guidance
1. What does the KMT2C genetic test detect?
This test identifies disease‑causing mutations in the KMT2C gene using high‑coverage NGS, confirming Kleefstra syndrome 2 as the root cause of developmental delay and associated features. A definitive molecular diagnosis enables precise prognosis and tailored intervention plans.
2. How is the sample collected? Is home service available?
A certified phlebotomist collects a whole blood sample (EDTA tube) or a dried blood spot (FTA card) during a painless home visit. Our VIP Mobile Phlebotomy service operates daily from 8 AM to 11 PM, using temperature‑controlled cold‑chain transport directly to the ISO‑accredited lab.
3. What does a positive result mean for my child’s future?
A positive result confirms a pathogenic KMT2C variant, enabling targeted early therapies, accurate developmental prognosis, and informed reproductive options for the family. Post‑test genetic counseling is included to help you understand and act on the results.
UAE Regulatory & Data Privacy Adherence
This diagnostic service complies fully with UAE health data protection regulations:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – governs all processing of personal and genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulates electronic health information management.
- Laboratory operations adhere to ISO 9001:2015 standards (Cert: INT/EGQ/2509DA/3139).
- All results are delivered via secure, encrypted channels; patient data is never shared without explicit consent.
Clinical & Logistical Metadata
| Test Name | KMT2C Gene Sequencing (Kleefstra Syndrome 2) – NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) – Venipuncture; VIP Mobile Phlebotomy available daily 8 AM–11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full coding region plus intronic boundaries |
| ICD-10-CM Code | Q93.5 (Chromosome 7 deletion) / Q87.89 (related syndrome) |
| LOINC Code | 101155-1 (KMT2C gene full sequence analysis) |
| DHA Facility License & Address | DHA License No. 1143 · Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians