TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Introduction to TREX1 Gene Testing
The TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test represents a significant advancement in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the TREX1 gene, which plays a critical role in DNA repair and maintenance. When this gene malfunctions, it can lead to Aicardi-Goutieres syndrome type 1, a rare but severe autoimmune neurological disorder that primarily affects infants and young children. Early detection through this comprehensive genetic analysis is essential for implementing appropriate medical interventions and improving long-term outcomes.
What This Advanced Test Detects
Our state-of-the-art NGS Genetic DNA Test specifically targets:
- Pathogenic variants in the TREX1 gene responsible for Aicardi-Goutieres syndrome type 1
- Single nucleotide polymorphisms (SNPs) affecting DNA repair mechanisms
- Copy number variations that may disrupt normal neurological development
- Inheritance patterns to determine familial risk factors
- Specific mutation types including missense, nonsense, and frameshift variants
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms in infancy or early childhood
- Progressive microcephaly (abnormally small head size)
- Developmental regression or delayed milestones
- Chronic cerebrospinal fluid leukocytosis
- Calcifications in basal ganglia visible on brain imaging
- Family history of similar neurological conditions
- Autoimmune manifestations with neurological involvement
Significant Benefits of Early Detection
Undergoing the TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Precise identification of TREX1 gene mutations enables definitive diagnosis
- Personalized Treatment: Results guide neurologists in developing targeted therapeutic approaches
- Family Planning: Identifies inheritance patterns for informed reproductive decisions
- Early Intervention: Facilitates timely medical management to potentially slow disease progression
- Genetic Counseling: Provides comprehensive information for affected families
- Research Contribution: Helps advance understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive reporting system provides clear, actionable results:
- Positive Result: Indicates presence of pathogenic TREX1 gene mutation, confirming Aicardi-Goutieres syndrome type 1 diagnosis
- Negative Result: No detected mutations in the TREX1 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of mutated gene without showing symptoms
All results are accompanied by detailed interpretation from our certified genetic specialists and recommendations for next steps in clinical management.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
To ensure optimal testing accuracy, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications with qualified genetic counselor
- Informed consent process explaining potential outcomes
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 testing for families nationwide.
Take Action Today
Don’t wait to get the answers you need for proper neurological care. Our team of genetic specialists and neurologists are ready to assist you in understanding and managing Aicardi-Goutieres syndrome type 1. Early genetic testing can make a significant difference in treatment outcomes and quality of life.
Book your TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take the first step toward comprehensive neurological genetic assessment and personalized care planning.
