Test Price
2,800 AED✅ Home Collection Available
EHMT1 Gene Kleefstra Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
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 (daily 8 AM – 11 PM).
- ✓ Clinical Guidance: Telephonic post-test clinical guidance for result interpretation.
- ✓ Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The EHMT1 Gene Kleefstra Syndrome Genetic Test uses Next‑Generation Sequencing (NGS) to detect pathogenic variants in the EHMT1 gene, the definitive molecular cause of Kleefstra syndrome, a rare neurodevelopmental disorder characterised by intellectual disability, hypotonia, and distinct facial dysmorphism. This targeted single‑gene analysis provides high‑coverage sequencing, identifying point mutations and small indels with exceptional precision.
| Feature | Our Test (EHMT1 NGS) | Closest Alternative (CMA) |
|---|---|---|
| Precision | Single‑gene high‑coverage sequencing, detects point mutations and small indels | Detects chromosomal deletions/duplications, misses intragenic variants |
| Methodology | Next‑Generation Sequencing (NGS) | Chromosomal Microarray (CMA) |
| Speed | 3–4 weeks | 2–4 weeks (limited variant scope) |
Physician Insight & Safety Protocols
“Kleefstra syndrome is a clinical and molecular diagnosis; this NGS test provides the critical genetic confirmation. Results must always be correlated with the full dysmorphology and developmental phenotype, and negative results may warrant broader exome or genome analysis. I strongly recommend pre‑ and post‑test genetic counselling to support families through the implications.”
— Lina Osama Zaki Quteineh (DHA License: 9294403), Consultant Medical Genetics
Advisory – Medication and Clinical Context
Do not discontinue any prescribed medication without consulting your treating physician. This test does not replace ongoing clinical care.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients without documented clinical suspicion of Kleefstra syndrome (e.g., isolated speech delay alone, known chromosomal abnormality explaining phenotype) should not use this targeted test.
- Exclusion: Samples with insufficient DNA yield, improper collection, or visible contamination will be rejected and require recollection.
- Emergency: If the individual experiences acute neurological deterioration, uncontrolled seizures, or severe feeding difficulties, seek immediate emergency care — this genetic test is not an acute diagnostic tool.
- Emergency: Suicidal ideation or sudden behavioural crisis requires urgent psychiatric assessment; do not wait for test results.
Patient FAQ & Clinical Guidance
1. What is the purpose of the EHMT1 gene test?
The EHMT1 Kleefstra syndrome NGS definitively identifies pathogenic mutations responsible for the condition, enabling precise clinical diagnosis and family planning.
2. How is the sample collected and what is required before testing?
A blood sample (whole blood in EDTA) or an FTA card is obtained via VIP mobile phlebotomy at home or at a clinic. A prior genetic counselling session is mandatory to document family history and clinical phenotype.
3. What is the turnaround time for results?
Results are delivered within 3 to 4 weeks from the date of sample receipt, ensuring comprehensive bioinformatic analysis and clinical verification in our ISO‑certified laboratory.
UAE Regulatory & Data Privacy Adherence
Your Data is Protected
We operate 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. All genetic data is encrypted, access‑controlled, and processed solely for diagnostic purposes. Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | EHMT1 Gene Kleefstra Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or FTA card – VIP Mobile Phlebotomy & Cold‑Chain Home Collection available |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License No: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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