Test Price
2,800 AED✅ Home Collection Available
IER3IP1 Gene (Microcephaly, Epilepsy, Diabetes Syndrome) Genetic Test in UAE | 2,800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% analytical sensitivity and specificity via ISO 9001:2015 certified NGS laboratory with Sanger confirmation of all pathogenic variants.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Emirates.
- Clinical Guidance: Complimentary pre- and post-test tele-genetic counselling by DHA-licensed Consultant Medical Genetics.
- Insurance: Direct billing verification available via WhatsApp at +971 54 548 8731; majority of UAE health insurance plans accepted.
- Turnaround Time: 3–4 weeks from sample receipt; results delivered securely via encrypted digital portal.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region and flanking intronic boundaries of the IER3IP1 gene to detect pathogenic mutations causing microcephaly, epilepsy, and diabetes syndrome (MEDS). MEDS is a severe autosomal recessive neurodevelopmental disorder characterised by early-onset refractory seizures, congenital microcephaly, and neonatal diabetes. The assay identifies single-nucleotide variants (SNVs), small insertions and deletions (indels), and canonical splice-site variants with high precision. All clinically significant variants are confirmed by Sanger sequencing to ensure diagnostic accuracy. This targeted approach offers a faster turnaround and lower cost compared to whole exome sequencing while maintaining equivalent analytical sensitivity for the IER3IP1 gene.
| Feature | IER3IP1 NGS Targeted Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Gene Coverage | IER3IP1 full coding region + 10 bp flanking introns | All ~20,000 genes; incidental findings possible |
| Methodology | NGS (Illumina) with Sanger confirmation of reportable variants | NGS with bioinformatics prioritisation; targeted panels unavailable |
| Turnaround Time | 3–4 weeks | 6–12 weeks |
| Price (AED) | 2,800 | 6,500+ |
| Ideal For | Patients with classic MEDS triad; sibling carrier testing; affected individual family studies | Atypical presentations; negative targeted panel; research settings |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I confirm that the identification of biallelic pathogenic variants in the IER3IP1 gene is diagnostic for microcephaly, epilepsy, and diabetes syndrome. This test enables definitive diagnosis, informs tailored anti-epileptic and endocrine management, and provides essential recurrence risk counselling for families (25% autosomal recessive inheritance). The NGS methodology employed at DNA Labs UAE, paired with mandatory genetic counselling, ensures that results are interpreted in the correct clinical context. I recommend this test for any child presenting with early-onset refractory epilepsy and microcephaly, especially when accompanied by neonatal diabetes."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚕️ Medication Advisory
Do not discontinue prescribed anti-epileptic drugs or insulin without consulting the treating physician. Genetic test results alone should never alter acute management. Any changes to medication must be made by the managing clinician in conjunction with the genetic report.
Patient Safety & Exclusion Criteria
- Exclusions: Testing may be invalid if the patient received a blood transfusion within the past 2 weeks, or has undergone allogeneic bone marrow transplant (donor DNA interference). For minors, mandatory parental/guardian consent is required in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: Seek immediate medical attention if the patient experiences severe hypoglycaemia, status epilepticus (prolonged seizure), or signs of increased intracranial pressure (worsening headache, vomiting, lethargy).
Patient FAQ & Clinical Guidance
1. What is the IER3IP1 genetic test and who should consider it?
This test sequences the IER3IP1 gene to diagnose microcephaly, epilepsy, and diabetes syndrome (MEDS). It is recommended for children presenting with early-onset refractory seizures, microcephaly, and neonatal diabetes; siblings of confirmed cases; and couples with a family history of MEDS seeking preconception counselling. The test also informs recurrence risk assessment for parents planning future pregnancies.
2. How accurate is the test and when will I receive results?
Our NGS-based targeted analysis achieves over 99.9% analytical sensitivity and specificity for point mutations and small insertions/deletions. All reportable variants are confirmed by Sanger sequencing. Turnaround time is 3–4 weeks from sample receipt at the laboratory. Results are reviewed by a Consultant Medical Genetics and communicated via a secure digital report.
3. Is home sample collection available and does insurance cover the test?
Yes, we provide VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across all UAE emirates, operating daily from 8 AM to 11 PM. A certified phlebotomist will collect whole blood (EDTA tube), extracted DNA, or a dried blood spot (FTA card). Direct insurance billing verification is available via WhatsApp at +971 54 548 8731; most UAE health insurance policies cover genetic testing with appropriate clinical indication.
4. Do I need to fast or stop medications before sample collection?
No fasting is required. Inform the laboratory of recent blood transfusions or bone marrow transplants as these may interfere with results. No specific medications are known to affect the test, but please disclose all current treatments during genetic counselling. The pre-test consultation includes pedigree analysis and consent verification.
5. What happens after the test? Do I receive genetic counselling?
Yes, complimentary post-test tele-genetic counselling is provided by our DHA-licensed Consultant Medical Genetics. The counselling session explains the implications of your results, recurrence risks (25% for siblings if both parents are carriers), and management recommendations. A detailed clinical report is issued, and family member testing options are discussed if appropriate.
UAE Regulatory & Data Privacy Adherence
Compliance & Trust Framework
- Data Protection: All genetic data is handled in strict 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. Patient information is encrypted, access-controlled, and never shared without explicit consent.
- Medical Liability: Clinical testing and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring full informed consent and professional accountability.
- DHA Licensing: DNA Labs UAE operates under DHA Facility License Number 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. The laboratory holds ISO 9001:2015 certification and participates in external quality assessment schemes.
Clinical & Logistical Metadata
| Test Name | IER3IP1 Gene (Microcephaly, Epilepsy, Diabetes Syndrome) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA tube), extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q87.89 (Other specified congenital malformation syndromes), Q02 (Microcephaly), E10.8 (Diabetes mellitus type 1 with other complications), G40.9 (Epilepsy, unspecified) |
| LOINC Code | 92879-1 (IER3IP1 gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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