PRPS1 Gene CMTX5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PRPS1 Gene CMTX5 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Charcot-Marie-Tooth disease type X5 (CMTX5), a rare X-linked inherited neurological disorder. This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive evaluation of the PRPS1 gene, which plays a critical role in purine metabolism and neurological function.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the PRPS1 gene, which encodes phosphoribosyl pyrophosphate synthetase 1, an essential enzyme in nucleotide synthesis. The test detects:
- Pathogenic variants and mutations in the PRPS1 gene
- Specific genetic alterations responsible for CMTX5
- X-linked inheritance patterns affecting neurological function
- Mutations that disrupt purine metabolism and nerve cell function
- Genetic markers associated with progressive peripheral neuropathy
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Progressive muscle weakness in hands and feet
- Sensory loss and numbness in extremities
- Hearing impairment or progressive hearing loss
- Family history of inherited neuropathies
- Unexplained neurological symptoms with X-linked inheritance pattern
- Children or adults with suspected Charcot-Marie-Tooth disease
- Individuals with optic atrophy and peripheral neuropathy
Clinical Benefits of PRPS1 Genetic Testing
Undergoing the PRPS1 Gene CMTX5 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Provides conclusive genetic confirmation of CMTX5
- Personalized Treatment: Enables targeted therapeutic interventions
- Genetic Counseling: Supports informed family planning decisions
- Early Intervention: Facilitates proactive management of symptoms
- Family Risk Assessment: Identifies at-risk family members
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates the presence of a pathogenic PRPS1 mutation, confirming CMTX5 diagnosis
- Negative Result: Suggests absence of tested mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation
- Carrier Status: Determines inheritance risk for family members
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer the PRPS1 Gene CMTX5 NGS Genetic DNA Test across all major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our extensive network of certified testing facilities ensures convenient access to advanced genetic diagnostics nationwide.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. The PRPS1 Gene CMTX5 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management of inherited neuropathies. Our team of genetic specialists and neurologists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and personalized care.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing accessible and convenient. Our comprehensive pre-test genetic counseling ensures you’re fully prepared for the testing process and understand the implications of your results.
