GALC Gene Krabbe Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Krabbe Disease
The GALC Gene Krabbe Disease NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the GALC gene, which are responsible for Krabbe disease – a rare and devastating neurological disorder. This advanced genetic screening utilizes next-generation sequencing technology to provide comprehensive analysis of the entire GALC gene, offering unparalleled accuracy in detecting even the most subtle genetic variations that could lead to this serious condition.
What Does This Test Measure?
This sophisticated genetic test specifically targets and analyzes the GALC (galactosylceramidase) gene, which provides instructions for producing an enzyme essential for breaking down specific fats called galactolipids. When mutations occur in this gene, the enzyme’s function is compromised, leading to the accumulation of toxic substances in the nervous system. The NGS technology employed in this test enables:
- Complete sequencing of the entire GALC gene
- Detection of point mutations, deletions, and insertions
- Identification of known pathogenic variants
- Discovery of novel genetic alterations
- Comprehensive variant analysis and interpretation
Who Should Consider This Test?
This genetic screening is particularly recommended for individuals exhibiting symptoms or having risk factors associated with Krabbe disease, including:
- Infants showing developmental regression or loss of milestones
- Children experiencing unexplained irritability and feeding difficulties
- Individuals with progressive muscle weakness and stiffness
- Patients with vision loss or hearing impairment of unknown origin
- Those with a family history of Krabbe disease or leukodystrophies
- Couples planning pregnancy with known family history of neurological disorders
- Newborns identified through screening programs with abnormal results
Key Benefits of GALC Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Early Diagnosis: Enables prompt intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Treatment Guidance: Informs appropriate therapeutic approaches
- Prognostic Information: Helps understand disease progression and outcomes
- Genetic Counseling: Supports informed decision-making for entire families
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists. Possible outcomes include:
- Positive Result: Identification of known pathogenic mutations confirming Krabbe disease diagnosis
- Carrier Status: Detection of one mutated copy indicating carrier status without disease manifestation
- Negative Result: No mutations detected, significantly reducing disease likelihood
- Variant of Uncertain Significance: Identification of genetic changes with unknown clinical impact requiring further evaluation
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GALC Gene Krabbe Disease NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | Neurologist |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Neurological Disorders |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of family members affected with GALC Gene Krabbe disease
- Informed consent for genetic testing and result disclosure
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with conveniently located branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic risks impact your family’s future. Our expert team of genetic specialists is ready to provide the clarity and guidance you need. With advanced NGS technology and comprehensive genetic counseling, we deliver results you can trust for informed healthcare decisions.
Ready to schedule your GALC Gene Krabbe Disease NGS Genetic DNA Test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and professional support.
