GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test
Comprehensive Genetic Testing for Gaucher Disease Type 3C
The GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of rare metabolic disorders. This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to identify specific mutations in the GBA gene that cause Gaucher disease type 3C, a progressive neurological condition affecting multiple body systems.
What This Test Measures and Detects
This comprehensive genetic test specifically targets the GBA (glucocerebrosidase) gene located on chromosome 1, which provides instructions for producing the enzyme glucocerebrosidase. When mutations occur in this gene, the enzyme’s function is impaired, leading to the accumulation of fatty substances in cells and organs. The NGS technology employed in this test enables:
- Detection of point mutations, insertions, and deletions in the GBA gene
- Identification of compound heterozygosity patterns
- Analysis of all coding regions and splice sites
- High-resolution mapping of genetic variations associated with type 3C
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Progressive neurological symptoms including seizures, cognitive decline, or movement disorders
- Organ enlargement (hepatosplenomegaly) without clear cause
- Blood abnormalities such as anemia, thrombocytopenia, or leukopenia
- Bone pain, fractures, or skeletal abnormalities
- Family history of Gaucher disease or related metabolic disorders
- Unexplained developmental delays in children
- Ocular movement abnormalities or supranuclear gaze palsy
Clinical Benefits of Genetic Testing
Undergoing the GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Gaucher disease type 3C with high precision
- Personalized Treatment: Guides enzyme replacement therapy and substrate reduction therapy decisions
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Enables timely management strategies to improve quality of life
- Differential Diagnosis: Distinguishes between different types of Gaucher disease and similar conditions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical specialists. The report typically includes:
- Positive Result: Indicates the presence of pathogenic mutations in the GBA gene, confirming Gaucher disease type 3C diagnosis
- Negative Result: Suggests no disease-causing mutations were detected, though clinical correlation is essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
All results are accompanied by detailed explanations and recommendations for next steps, including consultation with metabolic specialists and genetic counselors.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of potential implications and limitations of genetic testing
- Informed consent process explaining the nature of the test
Nationwide 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, San Jose, and many more. Our network of certified collection centers ensures easy access to this vital genetic testing service.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic health concerns affect your quality of life. Our dedicated team of genetic specialists, metabolic physicians, and certified counselors are ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test. Take control of your genetic health with confidence and precision.
