GALC Gene Krabbe Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Krabbe Disease Detection
The GALC Gene Krabbe Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for identifying Krabbe disease, a rare and devastating inherited metabolic disorder. This sophisticated testing method utilizes next-generation sequencing technology to provide accurate detection of mutations in the GALC gene, which is responsible for producing the enzyme galactosylceramidase. Early identification through this test can significantly impact treatment outcomes and family planning decisions.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets and analyzes the GALC gene located on chromosome 14q31. The test detects:
- Pathogenic mutations in the GALC gene that cause galactosylceramidase deficiency
- Various types of genetic variations including point mutations, deletions, and insertions
- Carrier status for individuals with family history of Krabbe disease
- Specific genetic markers associated with different forms and severity of the disease
- Inheritance patterns that help determine recurrence risks in families
Who Should Consider This Genetic Test?
This test is recommended for individuals experiencing symptoms or with risk factors including:
- Infants showing early signs of Krabbe disease such as irritability, feeding difficulties, and developmental regression
- Children with unexplained neurological symptoms including muscle weakness and vision problems
- Individuals with family history of Krabbe disease or leukodystrophies
- Couples planning pregnancy with known family history of metabolic disorders
- Newborns with abnormal newborn screening results for galactosylceramidase deficiency
- Patients with progressive neurological deterioration of unknown cause
Key Benefits of GALC Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables prompt intervention and treatment planning
- Accurate Carrier Detection: Identifies individuals carrying the genetic mutation
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Treatment Direction: Helps guide appropriate therapeutic approaches including hematopoietic stem cell transplantation
- Prognostic Information: Offers insights into disease progression and expected outcomes
- Genetic Counseling Support: Facilitates informed decision-making for affected families
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and explained in clear, understandable terms:
- Positive Result: Indicates the presence of pathogenic mutations in the GALC gene, confirming diagnosis or carrier status
- Negative Result: Suggests no detectable mutations were found, though does not completely rule out the possibility of rare mutations
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation
- Carrier Status: Identifies individuals with one copy of the mutated gene who are typically unaffected but can pass the condition to offspring
Our genetic counseling team will provide comprehensive guidance on understanding your results and their implications for your health and family planning.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| GALC Gene Krabbe Disease NGS Genetic DNA Test – Discount Price | $500 |
| GALC Gene Krabbe Disease NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about Krabbe disease risk. Our experienced genetic specialists are ready to guide you through the testing process and provide the comprehensive care you deserve. With turnaround times 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.
Call us now at +1(267) 388-9828 to schedule your appointment or book your test online. Early detection through genetic testing can make a significant difference in managing Krabbe disease and planning for your family’s future.
