B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of Dystroglycan NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The B3GALNT2 Gene Congenital Muscular Dystrophy NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test utilizes next-generation sequencing technology to identify mutations in the B3GALNT2 gene, which plays a crucial role in the proper glycosylation of α-dystroglycan. When this process is disrupted, it leads to congenital muscular dystrophy and related neurological complications that can significantly impact quality of life.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets:
- Mutations in the B3GALNT2 gene that disrupt normal protein function
- Genetic variants causing hypoglycosylation of α-dystroglycan
- Inheritance patterns for congenital muscular dystrophy
- Risk assessment for family members through genetic counseling
- Specific nucleotide changes affecting muscle membrane integrity
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Progressive muscle weakness beginning in infancy or early childhood
- Developmental delays in motor milestones
- Joint contractures and limited mobility
- Elevated creatine kinase levels
- Family history of muscular dystrophy or neurological disorders
- Brain abnormalities detected through imaging studies
- Eye abnormalities or vision problems
- Cognitive impairment associated with muscle weakness
Significant Benefits of Genetic Testing
Undergoing the B3GALNT2 gene test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out specific genetic causes of symptoms
- Personalized Treatment: Enables targeted therapeutic approaches
- Family Planning: Provides crucial information for reproductive decisions
- Prognostic Information: Helps predict disease progression and outcomes
- Early Intervention: Facilitates timely management strategies
- Genetic Counseling: Supports informed decision-making for families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates the presence of B3GALNT2 gene mutations, confirming diagnosis
- Negative Result: Suggests other genetic or non-genetic causes for symptoms
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals who may pass mutations to offspring
All results are accompanied by detailed explanations and recommendations from our genetic specialists.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of Dystroglycan 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 |
Nationwide Accessibility
We proudly serve patients 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, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified genetic counselors and neurologists ensures you receive expert care regardless of your location.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about neurological symptoms delay your path to proper diagnosis and treatment. Our B3GALNT2 gene test provides the clarity needed to make informed healthcare decisions. With our discounted price of $500 and comprehensive genetic counseling services, you can access world-class genetic testing without financial burden.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your neurological health.
