CTSA Gene Galactosialidosis NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The CTSA Gene Galactosialidosis NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced screening utilizes state-of-the-art Next-Generation Sequencing technology to identify mutations in the CTSA gene, which encodes cathepsin A—a crucial protective protein for multiple lysosomal enzymes. Galactosialidosis is an autosomal recessive disorder characterized by the combined deficiency of beta-galactosidase and neuraminidase activities, leading to progressive cellular damage and multi-system complications.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the CTSA gene located on chromosome 20q13.1, analyzing all coding regions and splice sites to identify pathogenic variants including:
- Point mutations affecting enzyme function
- Insertions and deletions disrupting protein structure
- Splice site mutations altering gene expression
- Compound heterozygous variants in autosomal recessive inheritance
The test provides 99% accuracy in detecting genetic abnormalities associated with galactosialidosis, enabling precise diagnosis and informed medical decision-making.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with symptoms suggestive of galactosialidosis or those with family history of metabolic disorders:
- Infants and children with coarse facial features, skeletal abnormalities, or developmental delays
- Patients exhibiting cherry-red spots in the eyes, corneal clouding, or vision impairment
- Individuals with hepatosplenomegaly, cardiac involvement, or hearing loss
- Those with unexplained neurological symptoms or progressive motor deterioration
- Family members of diagnosed individuals for carrier screening
- Couples with family history planning pregnancy
Significant Benefits of Genetic Testing
Undergoing the CTSA Gene Galactosialidosis NGS Genetic DNA Test offers numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt intervention before significant organ damage occurs
- Personalized Treatment: Guides targeted therapeutic approaches and management strategies
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Prognostic Insights: Helps predict disease progression and potential complications
- Peace of Mind: Reduces diagnostic uncertainty and facilitates appropriate medical care
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates presence of pathogenic CTSA gene mutations, confirming galactosialidosis diagnosis
- Negative Result: Suggests absence of detectable mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation and family studies
- Carrier Status: Detects individuals with single mutation who may pass the condition to offspring
All results include detailed interpretation by board-certified genetic specialists and recommendations for next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
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, and San Jose. Our network of certified genetic counselors and medical professionals ensures comprehensive care regardless of your location.
Take Action Today
Don’t let uncertainty about genetic health concerns affect your quality of life. The CTSA Gene Galactosialidosis NGS Genetic DNA Test provides definitive answers and empowers informed healthcare decisions. Our team is ready to assist you with scheduling, insurance questions, and genetic counseling services.
Call or WhatsApp us today at +1(267) 388-9828 to book your genetic test or schedule a consultation with our genetic specialists. Take the first step toward clarity and proactive health management.
