POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B2 NGS Genetic DNA Test
Understanding POMT2 Gene-Related Disorders
The POMT2 gene plays a critical role in the proper functioning of muscle and brain development. This specialized genetic test utilizes next-generation sequencing (NGS) technology to identify mutations in the POMT2 gene that cause congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2. This rare neurological condition affects multiple body systems and requires precise genetic diagnosis for appropriate medical management.
What Does This Test Detect?
Our advanced NGS genetic DNA test specifically targets:
- Pathogenic variants in the POMT2 gene
- Mutations affecting protein O-mannosyltransferase 2 function
- Genetic abnormalities causing abnormal glycosylation of alpha-dystroglycan
- Inherited patterns of congenital muscular dystrophy
- Genetic markers associated with brain and eye abnormalities
Clinical Significance of POMT2 Mutations
POMT2 gene mutations disrupt the normal glycosylation process essential for maintaining muscle integrity and proper brain development. This leads to the characteristic features of congenital muscular dystrophy-dystroglycanopathy, including severe muscle weakness, intellectual disability, and structural brain abnormalities detectable through advanced genetic testing.
Who Should Consider This Genetic Test?
This comprehensive genetic analysis is recommended for individuals presenting with:
- Congenital muscle weakness and hypotonia from birth
- Developmental delays and intellectual disability
- Structural brain abnormalities identified through imaging
- Eye abnormalities including retinal changes
- Family history of similar neurological conditions
- Unexplained seizures or epilepsy in infancy
- Feeding difficulties and failure to thrive
Early Detection Benefits
Early genetic diagnosis enables healthcare providers to implement appropriate interventions, monitor for potential complications, and provide accurate genetic counseling for family planning decisions.
Key Benefits of POMT2 Genetic Testing
- Definitive Diagnosis: Provides conclusive genetic confirmation of POMT2-related disorders
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Personalized Management: Guides targeted treatment and monitoring strategies
- Early Intervention: Facilitates timely implementation of supportive therapies
- Genetic Counseling: Supports comprehensive family risk assessment
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive result interpretation:
Positive Result Interpretation
A positive result indicates the presence of pathogenic POMT2 gene mutations. This confirms the diagnosis of congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2. Our genetic counselors will discuss:
- Specific mutation implications
- Disease progression expectations
- Management recommendations
- Family testing options
Negative Result Interpretation
A negative result suggests no pathogenic POMT2 mutations were detected. However, this doesn’t completely rule out other genetic causes of similar symptoms. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
Some genetic changes may have unknown clinical significance. Our team provides ongoing monitoring and may recommend additional family studies to clarify variant interpretation.
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B2 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, please ensure:
- Complete clinical history documentation
- Genetic counseling session completed
- Family pedigree chart prepared
- Appropriate sample collection arranged
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessible, reliable testing for patients nationwide.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and management of POMT2-related disorders. Our team of genetic specialists and neurologists is ready to provide comprehensive testing and counseling services.
Call us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Early diagnosis can make a significant difference in management outcomes and family planning decisions.
Our dedicated customer service representatives are available to answer your questions, explain the testing process, and help you schedule an appointment at your nearest testing location. Take the first step toward genetic clarity and personalized medical management.
