Test Price
2,800 AED✅ Home Collection Available
GATA6 Gene Atrioventricular Septal Defect Type 5 NGS Test
Executive Summary & Core Metrics
Clinical Accuracy: 99.9% diagnostic sensitivity for GATA6 pathogenic variants via next‑generation sequencing (NGS) in an ISO 9001:2015 certified laboratory (Cert: INT/EGQ/2509DA/3139).
VIP Mobile Phlebotomy: Temperature‑controlled cold‑chain home collection available daily 8 AM – 11 PM across all Emirates.
Clinical Guidance: Complimentary tele‑briefing with a consultant medical geneticist to interpret results and plan multidisciplinary care.
Insurance Direct Billing: Verify coverage instantly via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GATA6 gene test employs next‑generation sequencing (NGS) to detect single nucleotide variants, insertions/deletions, and copy number changes in the GATA6 gene associated with atrioventricular septal defect type 5 (AVSD5) – a congenital heart malformation affecting the septal walls. NGS provides full coverage of coding regions and exon‑intron boundaries.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Method | Next‑Generation Sequencing (NGS) with full gene coverage | Sanger sequencing – limited to known hotspots |
| Diagnostic Yield | >99.9% sensitivity for GATA6 coding regions | ~85% – may miss large deletions/duplications |
| Turnaround Time | 3‑4 weeks | 6‑8 weeks (if sent abroad) |
| Sample Types Accepted | Whole blood (EDTA), extracted DNA, dried blood spot (FTA card) | Whole blood only |
Physician Insight & Safety Protocols
“Genetic testing for congenital heart defects such as AVSD type 5 provides critical insights into etiology and recurrence risks. However, results must be interpreted in the context of clinical echocardiographic findings, family history, and multidisciplinary evaluation. This test supports informed decision‑making but does not replace comprehensive cardiac care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Note
Do not discontinue or modify any prescribed medications without consulting your physician. This genetic test is a diagnostic tool and not a substitute for ongoing medical surveillance and treatment. Always follow your cardiologist’s recommendations.
Exclusion Criteria & Emergency Red Flags
- Not valid if the patient has received an allogeneic blood transfusion within 120 days or has undergone bone marrow transplantation (donor DNA interference).
- This test is not intended for prenatal diagnosis without invasive sampling; chorionic villus sampling (CVS) or amniocentesis requires separate protocols.
- If the patient experiences cyanosis, severe breathlessness, syncope, or signs of heart failure, seek immediate emergency care – do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the GATA6 gene test for AVSD5?
This test identifies pathogenic mutations in the GATA6 gene that cause atrioventricular septal defect type 5, helping confirm diagnosis, guide surgical planning, and assess recurrence risk for families.
2. How long do results take, and what is the process?
Results are delivered within 3 to 4 weeks after sample collection. A collector will visit your home for a blood draw (EDTA tube) between 8 AM and 11 PM, and the sample is transported under temperature control to our sequencing facility.
3. Is home blood collection available for this test across the UAE?
Yes, we offer VIP mobile phlebotomy with cold‑chain logistics across all Emirates. Simply book via WhatsApp +971 54 548 8731 and a certified nurse will visit your location daily from 8 AM to 11 PM.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE complies 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. Clinical safety and patient consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic data are processed and stored within secure UAE infrastructure.
DHA Facility License: 1143 | Accredited by Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | GATA6 Gene Atrioventricular Septal Defect Type 5 NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, dried blood spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coverage |
| ICD-10-CM Code | Q21.2 |
| LOINC Code | 21561-4 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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