IER3IP1 Gene Microcephaly with Epilepsy and Diabetes Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurodevelopmental Disorders
The IER3IP1 Gene Microcephaly with Epilepsy and Diabetes Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare genetic conditions affecting neurological development and metabolic regulation. This specialized test utilizes next-generation sequencing technology to analyze the IER3IP1 gene, which plays a critical role in cellular stress response and endoplasmic reticulum function. Mutations in this gene are directly linked to a complex syndrome characterized by microcephaly, seizure disorders, and early-onset diabetes.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets and sequences the entire IER3IP1 gene to identify pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting gene function
- Novel mutations previously unreported in medical literature
- Inherited and de novo genetic alterations
Clinical Indications: Who Should Consider This Test?
This specialized genetic test is recommended for individuals presenting with the following clinical features:
Primary Symptoms and Clinical Presentations
- Congenital microcephaly (head circumference below the 3rd percentile)
- Recurrent seizure activity or epilepsy diagnosis in infancy or childhood
- Early-onset diabetes mellitus, typically diagnosed before age 10
- Developmental delay and intellectual disability
- Abnormal brain imaging findings, particularly simplified gyral patterns
- Family history of similar neurological and metabolic conditions
- Consanguineous parental relationships increasing genetic risk
Significant Benefits of Early Genetic Diagnosis
Obtaining a definitive genetic diagnosis through this test provides numerous clinical advantages:
Medical Management Improvements
- Personalized treatment strategies for seizure control
- Early intervention for diabetes management
- Targeted developmental support and educational planning
- Informed family planning and genetic counseling
- Accurate prognosis and long-term care planning
- Elimination of unnecessary diagnostic procedures
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
Result Interpretation Guidelines
- Positive Result: Identifies a pathogenic mutation in the IER3IP1 gene, confirming the diagnosis and enabling targeted management
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring without showing symptoms
Test Pricing and Service Details
| Service Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Service Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History and Genetic Counseling Session
- Specialty: Pediatrics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
Nationwide Accessibility Across the United States
We maintain comprehensive testing facilities throughout the United States, with specialized centers 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 network ensures convenient access to advanced genetic testing services regardless of your location.
Take Action Today for Better Health Outcomes
Early genetic diagnosis can significantly impact treatment outcomes and quality of life. Our team of board-certified genetic counselors and pediatric specialists are ready to assist you through every step of the testing process. Contact us today to schedule your comprehensive genetic evaluation and take the first step toward definitive answers and personalized care.
Call or WhatsApp: +1(267) 388-9828 to book your IER3IP1 Gene Microcephaly with Epilepsy and Diabetes Syndrome NGS Genetic DNA Test today. Our genetic specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
