Nx Gen Sequencing Canavan Disease Test
Comprehensive Genetic Testing for Canavan Disease
The Nx Gen Sequencing Canavan Disease Test represents the cutting edge of genetic diagnostics for rare neurological disorders. Utilizing advanced next-generation sequencing (NGS) technology, this comprehensive test provides detailed analysis of the ASPA gene, which is responsible for Canavan disease—a severe inherited metabolic disorder affecting the central nervous system.
What Does This Test Measure?
This sophisticated genetic test specifically targets and sequences the ASPA (aspartoacylase) gene to identify mutations that cause Canavan disease. The test employs both NGS and Sanger sequencing methodologies to ensure maximum accuracy and coverage of genetic variations.
- Comprehensive analysis of the ASPA gene
- Detection of point mutations, deletions, and insertions
- Identification of known and novel genetic variants
- Confirmation of findings through multiple sequencing methods
Who Should Consider This Test?
This test is particularly recommended for individuals and families experiencing specific symptoms or with concerning family histories:
- Infants showing developmental delays or regression
- Children with macrocephaly (enlarged head circumference)
- Individuals with poor muscle tone and motor control issues
- Families with a history of Canavan disease
- Couples planning pregnancy with known family history
- Patients with unexplained neurological symptoms
Key Benefits of Testing
Early and accurate diagnosis through genetic testing provides numerous advantages for patients and families:
- Early intervention and treatment planning
- Accurate genetic counseling for family planning
- Clear understanding of disease progression
- Access to specialized care and support services
- Peace of mind through definitive diagnosis
- Opportunity to participate in clinical trials
Understanding Your Test Results
Your test results will be thoroughly explained by our genetic counseling team. Results typically fall into several categories:
- Positive Result: Identifies specific ASPA gene mutations confirming Canavan disease diagnosis
- Negative Result: No mutations detected, significantly reducing likelihood of Canavan disease
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation
- Carrier Status: Identifies individuals carrying one copy of mutated gene
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $586 |
| Regular Price | $650 |
Sample Requirements and Processing
For accurate testing, please ensure proper sample collection and submission:
- Submit 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes
- Ship samples refrigerated – DO NOT FREEZE
- Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory
- Daily sample processing by 9 AM
- Results available within 40 working days
Nationwide Testing Availability
We have testing facilities and collection centers across all major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing services nationwide.
Take Action Today
Don’t wait to get the answers you need. Our team of genetic specialists, neurologists, and pediatricians are ready to provide comprehensive care and support. Contact us today to schedule your Nx Gen Sequencing Canavan Disease Test and take the first step toward understanding your genetic health.
Call or WhatsApp us at +1(267) 388-9828 to book your appointment or learn more about our genetic testing services.
