POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A3 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare congenital disorders affecting muscle, brain, and eye development. This specialized genetic analysis provides critical insights into one of the most complex forms of muscular dystrophy, enabling accurate diagnosis and informed medical management.
What Does This Test Measure?
This advanced genetic test specifically targets the POMGNT1 gene, which plays a crucial role in glycosylation processes essential for proper muscle and neurological development. The test utilizes Next-Generation Sequencing (NGS) technology to:
- Identify pathogenic variants in the POMGNT1 gene
- Detect mutations associated with congenital muscular dystrophy-dystroglycanopathy
- Analyze genetic markers for brain and eye anomalies
- Provide comprehensive coverage of all coding regions and splice sites
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Congenital muscle weakness and hypotonia
- Developmental delays in motor skills
- Brain malformations detected through imaging
- Ocular abnormalities including retinal dysplasia
- Family history of muscular dystrophy or neurological disorders
- Unexplained seizures or cognitive impairment
Clinical Benefits of Genetic Testing
Undergoing the POMGNT1 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out specific genetic causes of symptoms
- Treatment Guidance: Informs targeted therapeutic approaches
- Genetic Counseling: Helps families understand inheritance patterns
- Reproductive Planning: Provides information for future family planning decisions
- Prognostic Information: Offers insights into disease progression and management
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic variants in the POMGNT1 gene, confirming the diagnosis
- Negative Result: Suggests that POMGNT1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Specifications and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A3 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) |
| Specialty | Neurology & Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
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 collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our specialized genetic testing provides the clarity needed to move forward with confidence. Contact our genetic counseling team today to discuss your testing options and schedule your appointment.
Call or WhatsApp: +1(267) 388-9828 to book your POMGNT1 genetic test and take control of your neurological health journey.
