Test Price
2,800 AEDโ Home Collection Available
EMX2 Gene Schizencephaly Next-Generation Sequencing (NGS) Genetic Test in the UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity for single nucleotide variants and small indels across the EMX2 coding region via ISO 9001:2015 accredited NGS workflow (Certification INT/EGQ/2509DA/3139).
- Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AMโ11 PM; certified medical courier for sample transport.
- Post-Test Support: Complimentary telephonic clinical guidance with a DHA-licensed genetics specialist to contextualize results.
- Insurance Pre-Verification: Direct billing confirmation via WhatsApp +971 54 548 8731 prior to appointment booking.
Test Overview & Methodology
This next-generation sequencing assay analyzes the full coding region and conserved splice sites of the EMX2 gene to detect pathogenic variants associated with schizencephaly, a rare congenital brain malformation characterized by full-thickness clefts in the cerebral hemispheres. The test provides definitive molecular confirmation for diagnosis, recurrence risk estimation, and informed family planning decisions.
| Feature | Our EMX2 NGS Test | Alternative Methods (Sanger / Microarray) |
|---|---|---|
| Technology | NGS Full Gene Sequencing | Single-exon Sanger / Chromosomal microarray |
| Analytical Sensitivity | >99.9% for SNVs & indels | Limited to targeted exons or large CNVs |
| Turnaround Time | 3โ4 Weeks (ISO-accredited lab) | 6โ8 Weeks (outsourced workflow) |
| UAE Regulatory Compliance | DHA / MOHAP Compliant | Variable by laboratory |
Physician Insight & Safety Protocols
โAs a Consultant in Medical Genetics, I emphasize that EMX2 gene sequencing via NGS yields high-confidence molecular evidence for schizencephaly subtype classification. Results should be interpreted alongside neuroimaging findings and a three-generation family pedigree to guide recurrence risk counseling. A detected pathogenic variant confirms the genetic basis, while a negative result does not exclude structural anomalies arising from non-genetic or alternative genetic etiologies.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Clinical Advisory
Continue All Prescribed Treatments
Do not alter or discontinue any medication or therapy without direct consultation with your managing physician. Genetic testing results complement clinical care; they are not a substitute for ongoing neurological monitoring, anti-epileptic management, or developmental interventions.
Exclusion Criteria & Emergency Indicators
- This assay is not intended for acute diagnostic assessment of schizencephaly; cerebral MRI or CT remains the first-line imaging modality for structural brain malformations.
- Patients under 18 years of age require parental or legal guardian consent and a mandatory pre-test genetic counseling session in compliance with UAE regulations.
- Do not proceed with sample collection if the patient is hemodynamically unstable, experiencing uncontrolled seizure activity, or requires immediate medical stabilization.
- Seek emergency care for: sudden onset of severe headache, persistent vomiting, altered level of consciousness, new focal neurological deficits, or rapidly escalating seizure frequency.
Patient FAQ & Clinical Guidance
1. What is the clinical sensitivity of the EMX2 NGS test for schizencephaly?
Answer: The assay achieves analytical sensitivity exceeding 99.9% for single nucleotide variants and small insertions or deletions within the coding exons and flanking splice regions of EMX2. Clinical sensitivity depends on the proportion of schizencephaly cases attributable to EMX2 mutations, which is estimated at 10โ15% of familial and a smaller fraction of sporadic cases. Therefore, a negative result does not rule out the condition and must be correlated with imaging and clinical phenotype.
2. What sample types are accepted and are there any preparation requirements?
Answer: Accepted specimens include peripheral whole blood (3โ5 mL in EDTA tube), extracted genomic DNA (2 ยตg minimum), or dried blood spots on FTA cards. No fasting or special preparation is required. A pre-test genetic counseling session is recommended to document family history and obtain informed consent, particularly for minors.
3. How is my genetic data protected under UAE law?
Answer: All genetic information is handled 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. Samples are de-identified, stored in a secure biorepository with restricted access, and results are shared only with the ordering physician or the patientโs legal representative. Insurance details submitted via WhatsApp for direct billing verification are encrypted and not retained beyond the transaction.
4. Can this test be used for prenatal diagnosis or carrier screening?
Answer: This NGS test is validated for postnatal diagnostic confirmation. Prenatal testing (amniotic fluid or chorionic villus sampling) requires a separate validated workflow and must be coordinated through a maternal-fetal medicine specialist with pre-test and post-test genetic counseling. Carrier screening for EMX2 variants is not clinically indicated given the rarity of the condition and the need for precise phenotype correlation.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and adheres to the highest standards of data protection and clinical governance. All genetic testing procedures comply 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. Patient consent, sample handling, and result disclosure follow the principles of Federal Decree-Law No. 4 of 2016 on Medical Liability to ensure ethical and safe clinical practice. Our ISO 9001:2015 certification (INT/EGQ/2509DA/3139) guarantees rigorous quality management across the entire testing lifecycle.
Clinical & Logistical Metadata
| Test Name | EMX2 Gene Schizencephaly Next-Generation Sequencing (NGS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Coding Region and Splice Site Analysis |
| ICD-10-CM Code | Q04.6 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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