GLB1 Gene GM1 Gangliosidosis Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Metabolic Disorders
The GLB1 Gene GM1 Gangliosidosis Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited metabolic conditions. This sophisticated test utilizes next-generation sequencing technology to analyze the GLB1 gene, which encodes the beta-galactosidase enzyme essential for proper cellular function. GM1 gangliosidosis type 1 is a severe lysosomal storage disorder characterized by progressive neurological deterioration, making early and accurate diagnosis critical for affected families.
What Does This Test Detect?
This advanced genetic test specifically identifies mutations in the GLB1 gene that cause GM1 gangliosidosis type 1. The test measures:
- Pathogenic variants in the GLB1 gene affecting beta-galactosidase production
- Autosomal recessive inheritance patterns
- Specific genetic mutations responsible for enzyme deficiency
- Carrier status for family planning purposes
- Risk assessment for future pregnancies
Scientific Basis of GM1 Gangliosidosis
GM1 gangliosidosis type 1 results from mutations in the GLB1 gene located on chromosome 3p22.3. These genetic alterations lead to deficient activity of beta-galactosidase enzyme, causing accumulation of GM1 ganglioside in neurons and other tissues. The progressive buildup of this substance results in severe neurological symptoms and systemic complications that typically manifest in infancy.
Who Should Consider This Genetic Test?
This test is recommended for individuals displaying characteristic symptoms or with relevant family history:
Symptomatic Individuals
- Infants showing developmental regression after initial normal development
- Children exhibiting progressive muscle weakness and loss of motor skills
- Patients with cherry-red spots in the retina upon ophthalmological examination
- Individuals with coarse facial features and skeletal abnormalities
- Those experiencing seizures or exaggerated startle response
At-Risk Populations
- Family members of individuals diagnosed with GM1 gangliosidosis
- Couples with family history of lysosomal storage disorders
- Parents considering pregnancy with known carrier status
- Individuals from populations with higher incidence rates
Clinical Benefits of Genetic Testing
Undergoing the GLB1 Gene GM1 Gangliosidosis Type 1 NGS Genetic DNA Test provides numerous advantages:
Early Diagnosis and Intervention
Early identification allows for timely medical management and supportive care strategies that can improve quality of life and potentially slow disease progression.
Accurate Genetic Counseling
Precise genetic information enables comprehensive counseling about inheritance patterns, recurrence risks, and family planning options.
Informed Medical Decisions
Healthcare providers can develop targeted treatment plans and monitor disease progression more effectively with confirmed genetic diagnosis.
Reproductive Planning
Couples can make informed decisions about family planning, including consideration of prenatal testing and preimplantation genetic diagnosis.
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the GLB1 gene consistent with GM1 gangliosidosis type 1 diagnosis. Our genetic counselors will explain the specific mutations found and their clinical implications.
Negative Result Interpretation
A negative result suggests no pathogenic GLB1 gene mutations were detected, though genetic counseling is still recommended to understand residual risks and alternative diagnostic considerations.
Variant of Uncertain Significance
In some cases, genetic variants of uncertain clinical significance may be identified. Our team provides guidance on monitoring and additional testing recommendations.
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | GLB1 Gene GM1 Gangliosidosis Type 1 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree
- Documentation of family members affected by GM1 gangliosidosis type 1
- Informed consent for genetic testing
Nationwide Testing Availability
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, San Jose, and many more cities. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality care regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for informed healthcare decisions. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support. Early detection through genetic testing can make a significant difference in managing GM1 gangliosidosis and planning for the future.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your GLB1 Gene GM1 Gangliosidosis Type 1 NGS Genetic DNA Test. Take the first step toward understanding your genetic health with confidence and clarity.
