ABCC8 Gene Diabetes Mellitus Permanent Neonatal NGS Genetic DNA Test
Comprehensive Genetic Testing for Permanent Neonatal Diabetes
The ABCC8 Gene Diabetes Mellitus Permanent Neonatal NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, specifically designed to identify mutations in the ABCC8 gene that cause permanent neonatal diabetes mellitus. This rare metabolic disorder affects infants within the first six months of life and requires specialized genetic testing for accurate diagnosis and treatment planning.
What This Advanced Genetic Test Measures
This comprehensive NGS-based genetic test specifically targets the ABCC8 gene, which encodes the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta-cell ATP-sensitive potassium channel. Mutations in this gene disrupt normal insulin secretion mechanisms, leading to persistent hyperglycemia in newborns and infants. The test utilizes Next Generation Sequencing technology to provide:
- Complete sequencing of the ABCC8 gene coding regions
- Detection of point mutations, small insertions, and deletions
- Identification of known pathogenic variants associated with neonatal diabetes
- Comprehensive analysis of gene structure and function
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for infants and children presenting with:
- Persistent hyperglycemia developing within the first 6 months of life
- Failure to thrive despite adequate nutrition
- Developmental delays or neurological symptoms
- Family history of neonatal diabetes or early-onset diabetes
- Insufficient response to conventional diabetes management
- Suspected monogenic forms of diabetes in infancy
Significant Benefits of Genetic Testing
Undergoing the ABCC8 Gene Diabetes Mellitus Permanent Neonatal NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms the specific genetic cause of neonatal diabetes
- Personalized Treatment: Guides appropriate therapy selection, including potential transition from insulin to sulfonylureas
- Prognostic Information: Helps predict disease course and potential complications
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Enables timely management to prevent long-term complications
- Cost-Effective Care: Reduces unnecessary treatments and hospitalizations through precise diagnosis
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your ABCC8 gene status:
- Positive Result: Identifies a pathogenic mutation in the ABCC8 gene, confirming the diagnosis of permanent neonatal diabetes mellitus. This result enables targeted treatment approaches and provides crucial information for family members.
- Negative Result: No pathogenic mutations detected in the ABCC8 gene. This may indicate other genetic causes of neonatal diabetes that require further investigation.
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications. Additional family studies or functional testing may be recommended.
All results are accompanied by detailed interpretation from our board-certified genetic specialists, ensuring you receive comprehensive guidance for next steps in management and care.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
General Genetics Corporation provides comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about neonatal diabetes affect your child’s future. Our ABCC8 Gene Diabetes Mellitus Permanent Neonatal NGS Genetic DNA Test provides the clarity needed for effective treatment planning and long-term health management. With rapid turnaround times of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book this essential diagnostic test. Our genetic specialists are ready to guide you through the testing process and help you understand the implications of your results for your child’s health and wellbeing.
