POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A8 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A8 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare congenital disorders. This advanced testing methodology provides crucial insights into the genetic basis of a complex condition affecting multiple body systems, enabling accurate diagnosis and informed medical management.
What This Test Measures and Detects
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the POMGNT2 gene for pathogenic variants. The test specifically identifies:
- Point mutations, deletions, and insertions in the POMGNT2 gene
- Genetic variations affecting protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2 function
- Mutations responsible for disrupted glycosylation of alpha-dystroglycan
- Genetic markers associated with congenital muscular dystrophy-dystroglycanopathy
Clinical Indications: Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following symptoms or clinical findings:
- Congenital muscular weakness and hypotonia
- Structural brain anomalies including cobblestone lissencephaly
- Congenital eye abnormalities such as microphthalmia or retinal dysplasia
- Developmental delays and intellectual disability
- Family history of muscular dystrophy-dystroglycanopathy
- Unexplained congenital neurological disorders
- Abnormal brain MRI findings suggestive of neuronal migration defects
Significant Benefits of Genetic Testing
Undergoing the POMGNT2 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of the condition
- Prognostic Information: Helps predict disease progression and severity
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Targeted Management: Guides appropriate medical interventions and therapies
- Research Contribution: Advances understanding of rare genetic disorders
- Psychological Relief: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Test results are carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic POMGNT2 mutations confirming the diagnosis
- Negative Result: Suggests the absence of detectable mutations in the POMGNT2 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay proper medical care. Our experienced genetic counselors and neurological specialists are ready to guide you through the testing process and provide the answers you need for informed healthcare decisions.
Book your POMGNT2 Genetic DNA Test today by calling our dedicated genetic testing hotline at +1(267) 388-9828 or schedule your appointment online through our secure patient portal.
Our team understands the emotional and medical significance of genetic testing for rare neurological conditions. We provide compassionate, comprehensive care throughout your testing journey, from initial consultation to result interpretation and ongoing support.
