CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with cerebrotendinous xanthomatosis (CTX). This rare autosomal recessive disorder affects bile acid metabolism and leads to progressive neurological deterioration if left untreated. Our advanced next-generation sequencing technology provides unparalleled accuracy in identifying genetic variations that traditional testing methods might miss.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the CYP27A1 gene located on chromosome 2q35, which encodes the mitochondrial enzyme sterol 27-hydroxylase. The test comprehensively evaluates:
- Point mutations, insertions, and deletions in the CYP27A1 gene
- Missense, nonsense, and splice-site mutations affecting enzyme function
- Genetic variants that disrupt normal bile acid synthesis pathways
- Inheritance patterns through family genetic analysis
- Carrier status identification for genetic counseling purposes
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Progressive neurological symptoms including ataxia, dementia, or spasticity
- Development of tendon xanthomas, especially in the Achilles tendons
- Early-onset cataracts in childhood or adolescence
- Chronic diarrhea or gastrointestinal disturbances of unknown origin
- Developmental delays or intellectual disability in childhood
- Family history of CTX or consanguineous parentage
- Unexplained elevated serum cholestanol levels
- Premature atherosclerosis or cardiovascular symptoms
Significant Benefits of Early Genetic Testing
Undergoing the CYP27A1 genetic test provides numerous clinical advantages:
- Early Intervention Opportunities: Timely diagnosis enables prompt treatment with chenodeoxycholic acid, which can prevent or reverse neurological damage
- Family Planning Guidance: Identifies carrier status and provides essential information for reproductive decisions
- Accurate Diagnosis: Differentiates CTX from other neurological conditions with similar presentations
- Preventive Management: Allows for proactive monitoring and management of potential complications
- Treatment Monitoring: Provides baseline genetic information for evaluating treatment effectiveness
- Psychological Relief: Resolves diagnostic uncertainty and provides clear direction for medical management
Understanding Your Genetic Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic mutations in both CYP27A1 gene copies, confirming CTX diagnosis and guiding immediate treatment initiation
- Carrier Status: Identifies individuals with one mutated gene copy who are asymptomatic but can pass the condition to offspring
- Negative Result: Suggests absence of known CTX-causing mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation for proper interpretation
Test Pricing and Service Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Accessibility and Convenience
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 genetic counselors and neurological specialists ensures comprehensive pre-test counseling and post-test support.
Take Action for Your Neurological Health
Don’t let diagnostic uncertainty delay proper treatment. Early detection of cerebrotendinous xanthomatosis through genetic testing can significantly improve quality of life and prevent irreversible neurological damage. Our team of genetic specialists and neurologists is ready to provide the comprehensive care you deserve.
Book your CYP27A1 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 accurate diagnosis and effective treatment planning.
