GATA6 Gene Pancreatic Agenesis and Congenital Heart Defects NGS Genetic DNA Test
Comprehensive Genetic Analysis for Pancreatic and Cardiovascular Health
The GATA6 Gene Pancreatic Agenesis and Congenital Heart Defects NGS Genetic DNA Test represents a cutting-edge diagnostic approach to identifying genetic mutations responsible for serious developmental disorders affecting both pancreatic function and cardiovascular health. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive insights into the GATA6 gene, which serves as a critical transcription factor in embryonic development.
What Does the GATA6 Gene Test Measure?
This advanced genetic test specifically targets and analyzes the GATA6 gene, which encodes a zinc finger transcription factor essential for proper development of the pancreas and heart during embryonic stages. The test detects:
- Pathogenic variants and mutations in the GATA6 gene coding regions
- Single nucleotide polymorphisms (SNPs) associated with pancreatic agenesis
- Genetic markers linked to congenital heart defects including atrial septal defects, ventricular septal defects, and tetralogy of Fallot
- Variants associated with neonatal diabetes mellitus and pancreatic insufficiency
- Inheritance patterns that may affect family planning decisions
Who Should Consider GATA6 Genetic Testing?
This specialized genetic test is recommended for individuals and families experiencing:
- Newborns or infants with pancreatic agenesis or severe pancreatic insufficiency
- Children or adults with congenital heart defects of unknown etiology
- Individuals with neonatal diabetes mellitus requiring insulin therapy
- Patients with family history of pancreatic developmental disorders
- Those with unexplained cardiovascular abnormalities in multiple family members
- Couples with previous children affected by pancreatic or heart developmental issues
- Individuals undergoing fertility counseling with family history of GATA6-related disorders
Clinical Benefits of GATA6 Genetic Testing
Undergoing GATA6 genetic testing provides numerous clinical advantages:
- Early Diagnosis and Intervention: Enables prompt medical management of pancreatic insufficiency and cardiac abnormalities
- Personalized Treatment Planning: Guides specific therapeutic approaches based on genetic findings
- Family Risk Assessment: Identifies inheritance patterns and recurrence risks for family members
- Reproductive Counseling: Provides crucial information for family planning decisions
- Comprehensive Care Coordination: Facilitates multidisciplinary management involving endocrinologists, cardiologists, and genetic specialists
- Proactive Monitoring: Allows for regular surveillance of at-risk individuals before symptom onset
Understanding Your Test Results
Your GATA6 genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
- Positive Result: Indicates the presence of a pathogenic GATA6 gene mutation. This confirms the genetic basis for pancreatic agenesis and/or congenital heart defects, enabling targeted medical management and family screening.
- Negative Result: No pathogenic GATA6 mutations were detected. This may suggest other genetic or environmental factors contributing to the clinical presentation, requiring further evaluation.
- Variant of Uncertain Significance (VUS): A genetic change was identified, but its clinical significance is currently unknown. Additional family studies or research may be recommended.
All results include detailed explanations and recommendations for next steps, with genetic counseling sessions provided to ensure complete understanding.
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | GATA6 Gene Pancreatic Agenesis and Congenital Heart Defects NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Results delivery | 3-4 Weeks |
| Sample Type | Accepted specimens | Blood, Extracted DNA, or One drop Blood on FTA Card |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Pre-Test Requirements and Genetic Counseling
Before undergoing GATA6 genetic testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to discuss testing implications and expectations
- Development of a detailed pedigree chart documenting family members affected by GATA6-related conditions
- Informed consent process explaining potential outcomes and limitations
Our certified genetic counselors provide comprehensive pre-test education to ensure you fully understand the testing process, potential results, and implications for you and your family.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about potential GATA6 gene mutations. Early detection through genetic testing can significantly impact treatment outcomes and family planning decisions. Our team of genetic specialists, cardiologists, and endocrinologists are ready to provide the comprehensive care and support you deserve.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your GATA6 genetic test and take the first step toward understanding your genetic health.
With convenient locations across the USA and expert genetic counseling included, there’s no better time to invest in your health and peace of mind. Book your appointment now and receive our special discounted rate of $500 for comprehensive GATA6 genetic analysis.
