Canavan Disease Test – Comprehensive Genetic Screening
Understanding Canavan Disease
Canavan Disease represents a rare, inherited metabolic disorder that progressively damages the central nervous system’s nerve cells. This devastating condition results from mutations in the ASPA gene, which encodes the aspartoacylase enzyme essential for breaking down N-acetylaspartic acid (NAA) in the brain. When this enzyme is deficient, NAA accumulates to toxic levels, leading to the destruction of myelin—the protective sheath surrounding nerve fibers that ensures proper neural communication.
What This Test Measures and Detects
Our advanced Canavan Disease Test employs sophisticated Gas Chromatography/Mass Spectrophotometry (GC/MS) technology to precisely measure N-acetylaspartic acid concentrations in urine samples. This non-invasive testing method provides:
- Quantitative analysis of NAA levels to identify abnormal accumulation
- Detection of aspartoacylase enzyme deficiency
- Identification of metabolic patterns indicative of Canavan Disease
- Comprehensive assessment of organic acid metabolism
Who Should Consider This Test
This genetic screening is particularly recommended for individuals displaying symptoms or having risk factors associated with Canavan Disease, including:
- Infants showing developmental delays in head control, sitting, or walking
- Children experiencing progressive loss of previously acquired skills
- Individuals with abnormal muscle tone, either increased (spasticity) or decreased (hypotonia)
- Patients with feeding difficulties and swallowing problems
- Those exhibiting seizures or abnormal eye movements
- Individuals with a family history of Canavan Disease or Ashkenazi Jewish ancestry
- Couples planning pregnancy with known carrier status in their family
Clinical Indications and Symptoms
Early symptoms typically appear between 3-6 months of age and may include:
- Poor head control and macrocephaly (enlarged head size)
- Developmental regression and loss of motor skills
- Abnormal muscle stiffness or floppiness
- Difficulty with feeding and swallowing
- Progressive vision loss and hearing impairment
- Seizures and sleep disturbances
Benefits of Canavan Disease Testing
Early detection through our comprehensive screening offers numerous advantages:
- Early Intervention: Enables prompt medical management and supportive care
- Accurate Diagnosis: Provides definitive answers for concerned families
- Genetic Counseling: Facilitates informed family planning decisions
- Treatment Planning: Guides appropriate therapeutic interventions
- Prognostic Information: Helps families understand disease progression
- Carrier Detection: Identifies asymptomatic carriers for genetic counseling
Advanced Testing Methodology
Our state-of-the-art Gas Chromatography/Mass Spectrophotometry approach ensures:
- High sensitivity and specificity in NAA detection
- Reliable quantitative measurements
- Comprehensive metabolic profiling
- Accurate differentiation from similar disorders
- Consistent, reproducible results
Understanding Your Test Results
Interpreting your Canavan Disease Test results requires professional medical guidance:
Normal Results
Normal NAA levels typically indicate that aspartoacylase enzyme function is adequate, suggesting low probability of Canavan Disease. However, normal results don’t completely rule out the condition in all cases, and clinical correlation remains essential.
Abnormal Results
Elevated NAA concentrations suggest aspartoacylase deficiency and potential Canavan Disease. Abnormal results should be discussed with a genetic specialist who can:
- Confirm the diagnosis through additional testing if needed
- Provide comprehensive genetic counseling
- Discuss management options and supportive care
- Address family planning considerations
- Connect you with appropriate specialists and support resources
Follow-up Considerations
Depending on your results, your healthcare provider may recommend:
- Additional genetic testing for confirmation
- Family member screening
- Regular neurological assessments
- Developmental therapy interventions
- Nutritional support planning
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Canavan Disease Test – Discount Price | $112 |
| Canavan Disease Test – Regular Price | $162 |
Testing Process and Turnaround
Our streamlined testing process ensures efficiency and accuracy:
- Sample Collection: 10 mL (5 mL minimum) aliquot of random urine in sterile screw-capped container
- Sample Handling: No preservatives required; ship refrigerated or frozen
- Clinical Information: Provide brief clinical history with sample
- Testing Schedule: Samples accepted daily by 9 AM
- Report Delivery: Comprehensive results within 5 days
Nationwide Testing Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas, including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest territories
- Houston and Texas locations
- Phoenix and Southwest facilities
- Philadelphia and Northeast centers
- And comprehensive coverage throughout all 50 states
Take Action Today
Don’t wait to get the answers you need. Early detection of Canavan Disease can significantly impact management strategies and quality of life. Our experienced genetic specialists and advanced testing technology provide the comprehensive screening you deserve.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your Canavan Disease Test and take the first step toward clarity and proactive healthcare management.
Our dedicated team is ready to assist you with appointment scheduling, answer your questions about the testing process, and provide guidance on next steps. With convenient locations nationwide and affordable pricing, advanced genetic screening has never been more accessible.
