GNPTAB Gene Mucolipidosis Type 2 Alpha/Beta NGS Genetic DNA Test
Understanding Mucolipidosis Type 2 Alpha/Beta
Mucolipidosis Type 2 Alpha/Beta, also known as I-cell disease, is a rare inherited metabolic disorder characterized by the improper targeting of lysosomal enzymes. This condition results from mutations in the GNPTAB gene, which encodes the GlcNAc-1-phosphotransferase enzyme complex. When this enzyme malfunctions, lysosomal enzymes fail to reach their proper cellular destinations, leading to progressive cellular damage and multi-system complications.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic test specifically analyzes the GNPTAB gene to identify pathogenic variants responsible for Mucolipidosis Type 2 Alpha/Beta. The test examines:
- Complete coding regions of the GNPTAB gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants and novel mutations
- Copy number variations affecting gene function
Technical Methodology
Utilizing cutting-edge NGS technology, our test provides high-resolution analysis of the GNPTAB gene with exceptional accuracy and reliability. This advanced approach enables detection of various mutation types including missense, nonsense, frameshift, and splice site variants that conventional testing might miss.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with:
- Infants with coarse facial features and developmental delays
- Children exhibiting skeletal abnormalities and joint stiffness
- Patients with recurrent respiratory infections and cardiac involvement
- Individuals with family history of lysosomal storage disorders
- Couples with previous affected children planning future pregnancies
- Patients with unexplained progressive neurological deterioration
Clinical Indications and Symptoms
Early clinical signs that warrant consideration of this test include progressive developmental regression, gingival hyperplasia, corneal clouding, and characteristic radiographic findings such as dysostosis multiplex. The test is particularly valuable for confirming diagnosis in cases where clinical presentation overlaps with other lysosomal storage disorders.
Significant Benefits of Genetic Testing
Undergoing the GNPTAB gene test provides multiple advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Mucolipidosis Type 2 Alpha/Beta with high precision
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Treatment Guidance: Helps direct appropriate supportive care and management strategies
- Prognostic Information: Provides insights into disease progression and expected outcomes
- Genetic Counseling: Facilitates comprehensive family risk assessment and education
- Research Contribution: Adds to the growing understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results:
Positive Results
A positive result indicates the presence of pathogenic mutations in the GNPTAB gene, confirming the diagnosis of Mucolipidosis Type 2 Alpha/Beta. Our genetic counselors will provide detailed explanations about the specific mutations found, their inheritance patterns, and implications for family members.
Negative Results
A negative result suggests that no pathogenic variants were detected in the GNPTAB gene. However, this does not completely rule out the possibility of Mucolipidosis Type 2 Alpha/Beta, as rare mutations or technical limitations may exist. Further testing or clinical evaluation may be recommended.
Variant of Uncertain Significance
In some cases, genetic changes of unknown clinical significance may be identified. Our team will provide guidance on the interpretation of these findings and recommend appropriate follow-up testing or monitoring.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | GNPTAB Gene Mucolipidosis Type 2 Alpha/Beta 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 |
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 and potential outcomes
- Informed consent process explaining benefits and limitations
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 accessibility and consistent quality standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized GNPTAB gene testing provides the answers you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic counseling support, you can access world-class diagnostic services without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
