Test Price
2,800 AED✅ Home Collection Available
GATA4 Gene Atrial Septal Defect Type 2 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Sequencing
Service VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
Consultation Post-Test Clinical Guidance via telephonic interpretation by a Consultant Medical Genetics
Insurance Direct Billing verification via WhatsApp +971 54 548 8731
This next‑generation sequencing assay analyzes the entire coding region of the GATA4 gene to identify pathogenic variants associated with autosomal dominant atrial septal defect type 2 (ostium secundum). Results empower paediatric cardiologists and neonatologists to guide surveillance, familial cascade screening, and early intervention planning.
Test Overview & Methodology
The full‑gene NGS assay employs the Illumina® platform with copy‑number variation detection, delivering >99.6% sensitivity for single‑nucleotide variants, insertions, deletions, and exon‑level rearrangements. Clinical reporting follows ACMG variant interpretation guidelines and is mapped to current ICD‑10‑CM and LOINC terminology for seamless integration into electronic health records.
| Feature | GATA4 NGS Test | Closest Alternative (Sanger Single‑Exon) |
|---|---|---|
| Analytical Methodology | Full‑gene NGS (Illumina® platform) with CNV detection | Sanger sequencing of selected exons only |
| Variant Detection Rate | >99.6% sensitivity for SNVs, indels, and exon‑level deletions | ~85%, missing deep intronic and copy‑number changes |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Clinical Reporting | DHA‑compliant, ICD‑10‑CM & LOINC‑mapped with ACMG variant classification | May not include comprehensive ACMG variant interpretation |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasise that a pathogenic GATA4 variant significantly elevates the risk of secundum atrial septal defect, yet clinical expressivity varies widely. Results must be correlated with echocardiography, family pedigree analysis, and fetal ultrasound findings. This test serves as a risk‑stratification and family‑counselling tool; negative results do not exclude digenic inheritance, somatic mosaicism, or non‑genetic aetiologies.”
—Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not discontinue or adjust any prescribed cardiac medication (e.g., digoxin, diuretics, beta‑blockers) without consulting your treating physician. This genetic test informs hereditary risk and family screening, not acute pharmacological management or medication titration.
🚨 Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is validated for germline DNA from peripheral whole blood only. Samples from non‑standard sources (e.g., tumour tissue, heavily degraded DNA) are not accepted.
- Red Flags – Seek immediate emergency care if: the patient develops cyanosis, severe dyspnoea, syncope, or signs of acute heart failure. This test is intended for elective genetic risk evaluation and is not indicated for acute cardiac diagnosis or emergency triage.
Patient FAQ & Clinical Guidance
1. How does the GATA4 NGS test help in managing atrial septal defect type 2?
A positive result identifies a definitive genetic cause, enabling family cascade screening and tailored surgical timing. The NGS‑based assay achieves >99.9% analytic sensitivity for single‑nucleotide variants and exonic deletions across the entire GATA4 gene. Early molecular diagnosis often influences decision‑making for catheter‑based closure versus surgical repair in paediatric cardiology.
2. Can this test be performed on a newborn heel‑prick blood card?
Yes, a single drop of blood on an FTA card (dried blood spot) is a fully validated sample type. The collection is minimally invasive, stable at ambient temperature during transport, and yields sufficient DNA for NGS analysis. Home collection by a certified phlebotomist adhering to DHA cold‑chain protocols is available for neonates and children.
3. Is pre‑test genetic counselling required before sampling?
Yes, a genetic counselling session is mandatory before blood draw to construct a family pedigree, document clinical history, and obtain informed consent in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability. Counselling helps patients and families understand the implications of results and reduces unnecessary anxiety, especially in families with a history of congenital heart disease.
4. How are results delivered and interpreted?
A detailed DHA‑compliant clinical report is issued within 3–4 weeks, including variant classification per ACMG guidelines, a clearly written interpretive summary, and recommendations for family member testing. A telephonic follow‑up with the referring physician or the patient is provided by our Consultant Medical Genetics to ensure full understanding of the findings.
UAE Regulatory & Data Privacy Adherence
- Licensed by DHA under Facility License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
- All genetic data handled per 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
- Informed consent for genetic testing obtained in compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability
- ISO 9001:2015 Certified – Quality management system for clinical sequencing and reporting
- LOINC code: 82533-6 – GATA4 gene mutations found
- ICD‑10‑CM 2026: Q21.1 (Atrial septal defect), Z15.09 (Genetic susceptibility to other disease), Z13.6 (Encounter for screening for cardiovascular disorders)
Support & Booking: +971 54 548 8731 (WhatsApp) – Government‑endorsed mobile phlebotomy and home collection service available daily from 8 AM to 11 PM.
Clinical & Logistical Metadata
| Test Name | GATA4 Gene Atrial Septal Defect Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (Illumina® platform) with CNV detection |
| ICD-10-CM Code | Q21.1, Z15.09, Z13.6 |
| LOINC Code | 82533-6 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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