Test Price
2,800 AED✅ Home Collection Available
EEF1A2 Gene (Autosomal Dominant Intellectual Disability Type 38) Next-Generation Sequencing Genetic Test in UAE
Executive Summary & Core Metrics
- Price: 2,800 AED – all-inclusive, no hidden fees.
- Turnaround Time: 3–4 weeks from sample receipt, including expert clinical interpretation.
- Sample Type: Whole blood (EDTA tube), extracted DNA, or FTA card (dried blood spot).
- Accuracy: 99.9% diagnostic sensitivity with NGS and confirmatory Sanger sequencing.
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- Clinical Guidance: Complimentary post-test telephonic consultation with a DHA-licensed geneticist.
Test Overview & Methodology
This targeted NGS test deciphers every coding nucleotide of the EEF1A2 gene, directly identifying pathogenic variants responsible for autosomal dominant intellectual disability type 38 (MRD38). For children with unexplained developmental delay, it replaces broader, less‑sensitive chromosomal arrays with a definitive molecular answer that guides early intervention and family planning.
| Feature | Our Test – EEF1A2 NGS | Closest Alternative – Chromosomal Microarray (CMA) |
|---|---|---|
| Target Precision | Single‑gene deep sequencing with 99.9% analytical sensitivity for point mutations, indels, and splice variants. | Whole‑genome copy number variant detection; cannot detect single‑nucleotide changes or small indels in EEF1A2. |
| Methodology | Next‑Generation Sequencing (NGS) with bioinformatic filtering and Sanger confirmatory sequencing of all clinically significant variants. | Array‑based comparative genomic hybridization (aCGH) / SNP array. |
| Turnaround Time | 3 to 4 weeks from sample receipt — includes expert clinical interpretation. | 2 to 3 weeks (but often requires follow‑up single‑gene testing, delaying final diagnosis). |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (DHA Registration ID: 9294403) — Consultant Medical Genetics
“An EEF1A2 mutation diagnosis provides a clear molecular target for early intervention and family counseling. As a clinical geneticist, I emphasize that understanding the genetic basis empowers families to access tailored therapies and make informed reproductive decisions. This test is a cornerstone of precision medicine in neurodevelopmental disorders.”
Medication Advisory
Do not discontinue any prescribed medication (antiepileptics, neuroleptics, etc.) without consulting your treating physician. Genetic testing does not replace ongoing pharmacological management.
Patient Exclusion Criteria & Emergency Red Flags
Please ensure the following conditions do NOT apply before scheduling your home collection:
- Active febrile illness or systemic infection requiring hospitalisation.
- Inability to provide informed consent — for minors, a legal guardian must be present and consent protocols per Federal Decree-Law No. 4 of 2016 on Medical Liability apply.
- Known coagulopathy or severe thrombocytopenia that would contraindicate venipuncture (finger‑stick FTA card may still be an option — call us).
Seek Emergency Care if your child experiences:
- Acute loss of previously acquired speech or motor skills (regression).
- First‑time prolonged seizure (>5 minutes) or cluster of seizures.
- Severe behavioural changes with self‑harm or aggression.
Patient FAQ & Clinical Guidance
1. What is the EEF1A2 NGS test, and why is it ordered?
The EEF1A2 NGS test sequences the entire coding region of the EEF1A2 gene to identify pathogenic mutations causing autosomal dominant intellectual disability type 38. It is typically ordered by neurologists or clinical geneticists when a child presents with moderate to severe developmental delay, hypotonia, and autistic‑like features without an obvious chromosomal abnormality. Because the condition follows autosomal dominant inheritance, a single altered copy is sufficient to cause the disorder, and the test can also clarify recurrence risk for siblings.
2. Who should consider this genetic test?
Any child or adult with unexplained developmental delay, intellectual disability, and a family history consistent with autosomal dominant transmission should consider EEF1A2 testing. Primary indications include global developmental regression, absent or severely delayed speech, gait abnormalities, and seizures starting in infancy. A normal chromosomal microarray and metabolic screen in such cases raises the index of suspicion for monogenic neurodevelopmental disorders. The test is also indicated for asymptomatic parents who want to understand recurrence risk in future pregnancies.
3. How do I prepare for sample collection, and what sample types are accepted?
No fasting or special preparation is required — simply choose a convenient time for our DHA-licensed phlebotomist to visit your home. We accept whole blood (2-3 mL in EDTA tube), extracted DNA, or a single drop of blood dried on an FTA card (ideal for infants). The entire collection procedure follows UAE healthcare cold-chain standards, and samples are couriered directly to our ISO‑certified molecular laboratory for immediate processing. You will receive the result within 3 to 4 weeks, accompanied by a genetic counsellor consultation if desired.
UAE Regulatory & Data Privacy Adherence
All services comply with UAE 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 is governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic data is encrypted and stored on UAE-based servers; it is never shared without explicit written consent. Our laboratory is ISO 9001:2015 certified (Cert. INT/EGQ/2509DA/3139) and DHA-licensed under Facility License 1143.
Clinical & Logistical Metadata
| Test Name | EEF1A2 Gene (Autosomal Dominant Intellectual Disability Type 38) Next-Generation Sequencing Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA tube), extracted DNA, or FTA card (dried blood spot) |
| Methodology Used | Next-Generation Sequencing (NGS) with orthogonal Sanger confirmation |
| ICD-10-CM Code | F79.9 |
| LOINC Code | 21636-6 |
| 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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