GNPTAB Gene Mucolipidosis Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mucolipidosis Type 3
The GNPTAB Gene Mucolipidosis Type 3 NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of rare metabolic disorders. This specialized genetic test focuses on identifying mutations in the GNPTAB gene, which plays a crucial role in lysosomal enzyme trafficking and function. Mucolipidosis Type 3, also known as Pseudo-Hurler Polydystrophy, is an autosomal recessive disorder characterized by the progressive accumulation of complex carbohydrates and lipids within cells, leading to multisystem complications.
What This Test Measures and Detects
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the GNPTAB gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the GNPTAB gene
- Compound heterozygous mutations associated with Mucolipidosis Type 3
- Genetic variants affecting enzyme transport and lysosomal function
- Inheritance patterns for family planning purposes
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of Mucolipidosis Type 3, including:
- Children or adults with progressive skeletal abnormalities
- Individuals experiencing joint stiffness and limited mobility
- Patients with coarse facial features and corneal clouding
- Those showing developmental delays or intellectual disability
- Individuals with family history of metabolic disorders
- Couples with previous affected children planning future pregnancies
Key Benefits of GNPTAB Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early and Accurate Diagnosis: Enables precise identification of Mucolipidosis Type 3 before severe complications develop
- Personalized Treatment Planning: Guides appropriate medical management and therapeutic interventions
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and presented in a comprehensive report:
- Positive Result: Indicates the presence of pathogenic GNPTAB mutations confirming Mucolipidosis Type 3 diagnosis
- Negative Result: Suggests no detectable mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
All results include detailed explanations and recommendations for follow-up care with genetic counseling services.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
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. Our network of certified genetic testing facilities ensures accessible, reliable service regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our GNPTAB Gene Mucolipidosis Type 3 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With our discounted price of only $500, comprehensive genetic analysis is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
Our experienced genetic counselors are available to discuss your specific concerns, explain the testing process, and help you understand how this test can benefit you and your family. Early detection through genetic testing can significantly impact treatment outcomes and quality of life for individuals affected by Mucolipidosis Type 3.
