Test Price
2,800 AEDโ Home Collection Available
GATA6 Gene Pancreatic Agenesis and Congenital Heart Defects Genetic Test in UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across all Emirates. Available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation from our Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GATA6 Genetic Test screens for pathogenic mutations in the GATA6 gene, aiding in the diagnosis of pancreatic agenesis and congenital heart defects. This test combines advanced next-generation sequencing with UAE-compliant genetic counseling to deliver accurate and actionable results for patients and their families.
| Feature | Our Test | Closest Alternative (Whole Exome) |
|---|---|---|
| Precision | >99.9% sensitivity and specificity for GATA6 | May miss deep intronic variants; coverage variability |
| Method | Targeted NGS with full gene sequencing | Whole exome sequencing; incidental findings |
| Turnaround | 3โ4 Weeks | 6โ8 Weeks |
Our targeted approach ensures complete coverage of the GATA6 coding region and splice sites, minimising the risk of incidental findings while maximising diagnostic yield for the specified clinical indications.
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) advises: โThis targeted genetic analysis is recommended for patients presenting with congenital heart disease accompanied by pancreatic insufficiency or a confirmed family history of GATA6-related disorders. Results should always be correlated with echocardiography and pancreatic imaging, and families should receive professional genetic counselling before and after testing to fully understand recurrence risks and clinical implications.โ
Pre-Test Genetic Counselling Requirement
A mandatory pre-test counselling session is conducted by a licensed genetic counsellor to document a three-generation pedigree, discuss possible outcomes including variants of uncertain significance, and obtain written informed consent. This process aligns with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Exclusion Criteria & Emergency Red Flags
- Patients with active, unstable cardiovascular or pancreatic emergencies should seek urgent hospital care before considering elective genetic testing.
- Individuals unwilling to participate in pre-test genetic counselling and provide signed informed consent are not eligible for this test.
- ER Red Flags: Cyanosis, severe feeding difficulties in infants, sudden cardiac collapse, or acute pancreatitis require immediate hospital admission and should not be delayed for outpatient genetic evaluation.
Patient FAQ & Clinical Guidance
1. What medical conditions is this test designed to diagnose?
This test is recommended for infants, children, or adults presenting with congenital heart defects and unexplained pancreatic insufficiency, or for family members following identification of a confirmed GATA6 mutation.
2. How is the sample collected, and is home collection available?
A standard peripheral blood draw is the primary sample type. We offer VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across Dubai, Abu Dhabi, and all Emirates from 8 AM to 11 PM. Buccal swabs or dried blood spots may also be accepted following prior consultation.
3. Does the price include genetic counselling and what is the turnaround time?
The price of 2,800 AED includes an initial genetic counselling session, NGS analysis of the sample, and a detailed medical report delivered within 3โ4 weeks. A post-test telephone consultation to explain results and recurrence risks is also provided.
4. Can this test detect all genetic causes of pancreatic agenesis and congenital heart defects?
No. This test is specific to the GATA6 gene only. Other genes associated with syndromic and non-syndromic forms of these conditions (e.g., PDX1, NKX2-5, GATA4) are not covered. Broader panel or whole exome sequencing may be recommended if the clinical picture is atypical or if family history suggests a different genetic aetiology.
UAE Regulatory & Data Privacy Adherence
All genetic data generated by this test is processed and stored 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. Patient consent, data minimisation, and secure encryption protocols are rigorously applied throughout the testing lifecycle. Clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability to ensure patient safety and professional accountability.
Clinical & Logistical Metadata
| Test Name | GATA6 Gene Sequencing โ Pancreatic Agenesis & Congenital Heart Defects |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (preferred), buccal swab, or dried blood spot |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) โ full gene sequencing of GATA6 coding regions and splice junctions |
| ICD-10-CM Code | Q45.0, Q24.8, Z13.79 |
| LOINC Code | 77673-8 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians