B4GALT1 Gene Glycosylation Disorder Type 2D NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The B4GALT1 Gene Glycosylation Disorder Type 2D NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the B4GALT1 gene, which plays a critical role in the glycosylation process—the attachment of sugar molecules to proteins. When this gene malfunctions, it leads to Congenital Disorders of Glycosylation (CDG), specifically Type 2D, causing severe neurological impairments and developmental challenges.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the B4GALT1 gene to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Copy number variations impacting gene dosage
- Pathogenic variants disrupting glycosylation pathways
- Compound heterozygous mutations
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Intellectual disability of unknown origin
- Recurrent seizures or epilepsy without clear cause
- Abnormal muscle tone (hypotonia or hypertonia)
- Cerebellar ataxia and coordination difficulties
- Failure to thrive despite adequate nutrition
- Family history of similar neurological symptoms
- Previous inconclusive genetic testing results
Significant Benefits of Early Detection
Undergoing the B4GALT1 genetic test provides numerous advantages:
- Definitive Diagnosis: End the diagnostic odyssey with clear genetic confirmation
- Personalized Treatment: Develop targeted management strategies based on specific genetic findings
- Family Planning: Make informed reproductive decisions with genetic counseling
- Proactive Monitoring: Implement early interventions for potential complications
- Research Participation: Contribute to advancing understanding of rare genetic disorders
- Insurance and Support: Access specialized services and support networks
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies a pathogenic mutation in the B4GALT1 gene, confirming diagnosis of Glycosylation Disorder Type 2D
- Negative Result: No disease-causing variants detected in the B4GALT1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identifies individuals carrying one copy of a mutated gene without symptoms
All results include detailed clinical correlations and recommendations for next steps, with genetic counseling available to help understand implications for you and your family.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | B4GALT1 Gene Glycosylation Disorder Type 2D 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
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of neurological symptoms and developmental timeline
- Previous genetic testing results (if available)
Nationwide Accessibility
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 counselors and neurological specialists ensures comprehensive care regardless of your location.
Take the Next Step Toward Answers
Don’t let unexplained neurological symptoms continue without answers. Our B4GALT1 Gene Glycosylation Disorder Type 2D NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. Our team of genetic specialists and neurologists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your neurological health with definitive genetic answers from America’s leading genetics laboratory.
