UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Health
The UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations in the UROC1 gene that can lead to urocanase deficiency. This condition affects the body’s ability to properly metabolize histidine, an essential amino acid, potentially resulting in serious neurological complications and developmental challenges.
What Does This Test Measure?
This advanced genetic screening utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the UROC1 gene for any mutations or variations that may impair urocanase enzyme function. The test specifically examines:
- Complete sequencing of the UROC1 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of genetic variants affecting enzyme activity
- Assessment of potential compound heterozygosity
- Evaluation of mutation impact on protein structure and function
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Unexplained neurological symptoms including seizures or tremors
- Developmental delays in infants and children
- Intellectual disability of unknown origin
- Metabolic abnormalities detected in newborn screening
- Family history of urocanase deficiency or related neurological disorders
- Unexplained elevated histidine levels in blood tests
- Progressive neurological deterioration without clear diagnosis
Key Benefits of UROC1 Genetic Testing
- Early Diagnosis: Enables prompt intervention before significant neurological damage occurs
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Accurate Prognosis: Helps predict disease progression and potential complications
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire gene
- Clinical Correlation: Results are interpreted by experienced genetic specialists
Understanding Your Test Results
Your genetic test report will provide detailed information about any identified mutations in the UROC1 gene. Results are typically categorized as:
- Normal Result: No pathogenic mutations detected in the UROC1 gene
- Pathogenic Mutation: Identified genetic changes known to cause urocanase deficiency
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of a mutated gene
All results are accompanied by comprehensive interpretation from our board-certified genetic counselors and neurologists, ensuring you receive clear guidance on next steps and management options.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | Neurology |
| Department | Genetics |
| Testing Method | NGS Technology |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities 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
To ensure the most accurate and meaningful results, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications and limitations of testing
- Informed consent process for genetic analysis
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With advanced NGS technology and expert interpretation, you’ll receive comprehensive insights into your genetic profile.
Ready to schedule your genetic test? Contact us today at +1(267) 388-9828 or book your appointment online. Our genetic specialists are available to answer your questions and guide you through the testing process.
Take the first step toward understanding your neurological health with confidence and precision. Early detection through genetic testing can make a significant difference in managing potential neurological conditions effectively.
