PRPS1 Gene Arts Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PRPS1 Gene Arts Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in the field of neurological genetics. This specialized test utilizes next-generation sequencing (NGS) technology to analyze the PRPS1 gene, which plays a critical role in purine metabolism and neurological function. Arts syndrome is a rare X-linked disorder characterized by early-onset neurological symptoms, making accurate genetic diagnosis essential for proper management and treatment planning.
What Does This Test Measure?
This advanced genetic test specifically targets and sequences the entire PRPS1 gene to identify pathogenic variants associated with Arts syndrome. The test detects:
- Point mutations in the PRPS1 gene coding regions
- Small insertions and deletions affecting gene function
- Missense mutations that alter protein structure
- Genetic variants affecting phosphoribosylpyrophosphate synthetase activity
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Early-onset sensorineural hearing loss
- Developmental delays and intellectual disability
- Optic atrophy and visual impairment
- Peripheral neuropathy symptoms
- Recurrent infections and immune system abnormalities
- Family history of X-linked neurological disorders
- Unexplained ataxia or coordination problems
Key Benefits of PRPS1 Genetic Testing
Undergoing PRPS1 gene testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Arts syndrome with high precision
- Family Planning: Enables informed reproductive decisions for at-risk families
- Personalized Treatment: Guides targeted therapeutic approaches
- Early Intervention: Facilitates timely management of symptoms
- Genetic Counseling: Provides comprehensive risk assessment for family members
Understanding Your Test Results
Your PRPS1 gene test results will be carefully interpreted by our expert geneticists:
- Positive Result: Indicates the presence of a pathogenic PRPS1 variant associated with Arts syndrome
- Negative Result: Suggests no disease-causing mutations were detected in the PRPS1 gene
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for female relatives in X-linked inheritance patterns
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PRPS1 Gene Arts Syndrome NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
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, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our comprehensive PRPS1 Gene Arts Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through the testing process and help you understand your genetic health.
