GLB1 Gene GM1 Gangliosidosis Type 2 NGS Genetic DNA Test
Understanding GM1 Gangliosidosis Type 2
GM1 gangliosidosis type 2 is a rare inherited metabolic disorder classified as a lysosomal storage disease. This progressive neurological condition results from mutations in the GLB1 gene, which provides instructions for producing the enzyme beta-galactosidase. When this enzyme is deficient, harmful substances called GM1 gangliosides accumulate in cells throughout the body, particularly in nerve cells of the brain and spinal cord, leading to progressive neurological damage and developmental regression.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically analyzes the GLB1 gene to identify pathogenic variants responsible for GM1 gangliosidosis type 2. The test examines:
- Complete sequencing of the GLB1 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of known and novel genetic variants
- Assessment of enzyme function impact
Technical Specifications
- Methodology: Next-Generation Sequencing (NGS) Technology
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Genetics
- Department: Genetic Metabolic Disorders
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Progressive neurological deterioration in early childhood
- Developmental regression after initial normal development
- Muscle weakness and poor coordination
- Seizures or movement disorders
- Family history of GM1 gangliosidosis or similar metabolic disorders
- Unexplained developmental delays with neurological symptoms
- Parents planning pregnancy with family history of lysosomal storage diseases
Clinical Benefits of Genetic Testing
Undergoing the GLB1 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out GM1 gangliosidosis type 2 with high precision
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Treatment Guidance: Helps direct appropriate medical management and supportive care
- Genetic Counseling: Provides essential information for family members about inheritance risks
- Early Intervention: Facilitates timely implementation of supportive therapies
- Research Participation: May qualify patients for clinical trials and emerging treatments
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications with a healthcare provider
- Understanding of potential results and their meaning
Understanding Your Test Results
Your genetic test report will provide comprehensive information about GLB1 gene variants:
- Positive Result: Identifies pathogenic mutations confirming GM1 gangliosidosis type 2 diagnosis
- Negative Result: No disease-causing variants detected, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Result Interpretation Guidance
All results should be reviewed with a genetic counselor or medical geneticist who can explain:
- Specific mutation implications for disease progression
- Inheritance patterns and family member risks
- Available management strategies and supportive care options
- Reproductive options for future family planning
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| GLB1 Gene GM1 Gangliosidosis Type 2 NGS Genetic DNA Test – Discount Price | $500 |
| GLB1 Gene GM1 Gangliosidosis Type 2 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients 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 network ensures accessible genetic testing services regardless of your location.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and management of potential GM1 gangliosidosis type 2. Our genetic specialists are ready to assist you with comprehensive testing and counseling services.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your GLB1 Gene GM1 Gangliosidosis Type 2 NGS Genetic DNA Test and take the first step toward accurate diagnosis and informed healthcare decisions.
Early genetic testing can provide crucial information for managing this rare metabolic disorder and guiding appropriate medical care for affected individuals and their families.
