Test Price
2,800 AED✅ Home Collection Available
MEF2C Gene Intellectual Disability (Autosomal Dominant Type 20) Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Diagnostic Sensitivity: 99.9% analytical sensitivity for single nucleotide variants and small indels within the MEF2C coding region via NGS with orthogonal Sanger confirmation of all reportable findings.
Premium Logistics: Hospital-grade home collection by DHA-licensed phlebotomists via ISO-certified cold-chain transport. VIP Mobile Phlebotomy available 8 AM – 11 PM across all seven emirates. FTA card option for remote regions.
Post-Test Clinical Guidance: Complimentary telephonic consultation with a certified genetic counselor within 14 days of result release to interpret findings and coordinate specialist referral.
Direct Insurance Billing: Verify coverage instantly via WhatsApp at +971 54 548 8731. Pre-authorization support for all major UAE insurers.
Accredited Laboratory: This test is performed at DNA Labs UAE, an ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139) operating under DHA Facility License 1143. All processes adhere 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.
Test Overview & Methodology
The MEF2C gene (Myocyte Enhancer Factor 2C), located at 5q14.3, encodes a transcription factor critical for neuronal differentiation, synaptic plasticity, and craniofacial development. Pathogenic loss-of-function variants in MEF2C cause autosomal dominant intellectual disability type 20 (OMIM: 613443), a syndromic neurodevelopmental disorder characterized by moderate-to-severe intellectual disability, early-onset epilepsy, absent or severely delayed speech, stereotypic movements, and distinctive dysmorphic features.
Comparative Advantage: Targeted MEF2C NGS vs. Whole Exome Sequencing
| Parameter | Our Test: Targeted MEF2C NGS | Whole Exome Sequencing (WES) |
|---|---|---|
| Analytical Sensitivity | 99.9% for MEF2C coding region | 95-98% (variable coverage depth) |
| Methodology | NGS + Orthogonal Sanger Confirmation | NGS only; Sanger validation often additional cost |
| Turnaround Time | 3 – 4 Weeks | 8 – 16 Weeks |
| Cost (UAE Market) | 2,800 AED | 4,500 – 6,500 AED |
| Clinical Utility When MEF2C Is Suspected | Optimal – focused, rapid, cost-effective | Excessive – generates incidental findings requiring complex interpretation |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
"Genetic testing for MEF2C is most clinically transformative when integrated into a holistic neurodevelopmental assessment. A molecular diagnosis not only confirms the underlying etiology but also opens doors to early intervention programs, tailored educational strategies, and informed family planning. I advise every family to review results alongside a clinical geneticist who can contextualize the findings within the broader clinical picture, ensuring that management decisions are both compassionate and evidence-based."
Medication Safety Advisory
⚠ IMPORTANT: Do not discontinue or adjust any prescribed anti-epileptic medications, neuroleptics, or other centrally acting drugs without direct consultation with your treating physician. This genetic test analyzes germline DNA and is not affected by concurrent pharmacotherapy.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria – Do Not Proceed Without Clinical Clearance:
- Recipient of allogeneic bone marrow or stem cell transplant within the preceding 12 months (donor-derived DNA may confound germline interpretation)
- Active hematological malignancy with circulating blast cells exceeding 5% on recent CBC
- Inability of legal guardian to provide informed consent for minors
- Absence of documented pre-test genetic counseling session
🚨 Emergency Red Flags – Seek Immediate Medical Attention If:
- Prolonged seizure lasting more than 5 minutes or clusters of seizures without return to baseline consciousness
- Acute onset of new neurological deficits (focal weakness, vision loss, gait instability)
- Severe behavioral dysregulation with aggression or self-injury requiring urgent psychiatric evaluation
- Signs of neuroleptic malignant syndrome: hyperthermia, rigidity, altered mental status, autonomic instability
Patient FAQ & Clinical Guidance
1. What does the MEF2C gene test diagnose, and who should consider it?
This NGS test identifies pathogenic variants in the MEF2C gene responsible for autosomal dominant intellectual disability type 20, a syndromic neurodevelopmental disorder. The test is recommended for children and adults presenting with moderate-to-severe global developmental delay, early-onset epilepsy (particularly infantile spasms or myoclonic seizures), absent or severely limited speech, stereotypic hand movements, hypotonia, and distinctive craniofacial features including a broad forehead, deep-set eyes, and a tented upper lip. It is also indicated for parents planning future pregnancies when a previously affected child lacked molecular confirmation, and for asymptomatic first-degree relatives seeking carrier status clarification under the guidance of a clinical geneticist.
2. How is the sample collected, what is the turnaround time, and can I do this test from home in the UAE?
A DHA-licensed phlebotomist collects a standard venous blood sample, buccal swab, or finger-prick dried blood spot (FTA card) during a single hospital-grade home visit. Sample collection is available across all seven emirates from 8 AM to 11 PM, seven days a week, with specimens transported in ISO-certified cold-chain containers maintaining 2-8 degrees Celsius until arrival at our accredited laboratory. The turnaround time is 3 to 4 weeks from the date of sample receipt. FTA card collection is particularly suitable for pediatric patients, individuals with difficult venous access, and families residing in remote areas of the UAE. Results are delivered via a secure, encrypted online portal with an accompanying telephonic genetic counseling session.
3. Do I need a doctor's referral for this test, and what happens after I receive my results?
Under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability, a referral from a DHA-licensed neurologist, clinical geneticist, or developmental pediatrician is mandatory before initiating any diagnostic genetic test. Once you receive your results, our certified genetic counselor will schedule a complimentary telephonic consultation to walk you through the findings, explain the clinical significance of any identified variants, and coordinate a direct referral to an appropriate specialist for ongoing management. If a pathogenic variant is confirmed, the counselor will also discuss recurrence risk for future pregnancies and facilitate cascade testing for at-risk family members. Insurance pre-authorization support is available via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
Federal Decree-Law No. 45 of 2021 (PDPL)
All genomic data is processed, stored, and transmitted in strict compliance with the UAE Personal Data Protection Law. Encrypted servers within UAE sovereign borders ensure no unauthorized cross-border data transfer.
Federal Law No. 2 of 2019 (ICT in Health)
Health information and communication technology used in laboratory operations and patient communication adhere fully to this federal law, guaranteeing secure electronic health records and telehealth practices.
Federal Decree-Law No. 4 of 2016 (Medical Liability)
Pre-test genetic counseling, informed consent, and result disclosure follow this law, ensuring patients and guardians understand the implications of genetic testing and their rights under UAE medical jurisdiction.
Clinical & Logistical Metadata
| Test Name | MEF2C Gene Intellectual Disability (Autosomal Dominant Type 20) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Buccal Swab, FTA Card / Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) with Orthogonal Sanger Confirmation |
| ICD-10-CM Code | F78.9, G40.909, Z15.89 |
| LOINC Code | 93359-8 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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