ATIC Gene AICAribosiduria Due to ATIC Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Metabolic Disorders
The ATIC Gene AICAribosiduria Due to ATIC Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets mutations in the ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase) gene, which plays a critical role in purine biosynthesis. When this gene malfunctions, it leads to AICAribosiduria, a rare autosomal recessive disorder characterized by the accumulation of AICA-riboside in bodily fluids.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the ATIC gene to identify pathogenic variants responsible for AICAribosiduria. The test specifically detects:
- Point mutations and single nucleotide variants in the ATIC gene
- Small insertions and deletions affecting gene function
- Copy number variations that may disrupt normal purine metabolism
- Compound heterozygous mutations contributing to disease manifestation
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or epilepsy
- Developmental delays or regression in motor skills
- Intellectual disability of unknown origin
- Abnormal muscle tone or movement disorders
- Family history of metabolic disorders or consanguineous parents
- Previous abnormal metabolic screening results
- Suspected inborn errors of metabolism with neurological involvement
Clinical Benefits of Genetic Testing
Undergoing the ATIC Gene AICAribosiduria test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out ATIC deficiency with high precision
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to improve outcomes
- Differential Diagnosis: Distinguishes ATIC deficiency from other metabolic disorders with similar presentations
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies pathogenic variants in the ATIC gene, confirming diagnosis of AICAribosiduria
- Negative Result: No disease-causing variants detected, though does not completely rule out the condition
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identifies individuals carrying one copy of a mutated gene who may pass it to offspring
All results are accompanied by detailed clinical interpretation and recommendations for follow-up care from our genetic specialists.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | ATIC Gene AICAribosiduria Due to ATIC Deficiency 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of family members affected with AICAribosiduria or related metabolic disorders
- Review of previous metabolic testing and neurological evaluations
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic metabolic conditions affect your health decisions. Our ATIC Gene AICAribosiduria Due to ATIC Deficiency NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call us today at +1(267) 388-9828 to schedule your genetic test or to speak with our genetic counseling team. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory.
