B4GALT1 Gene Glycosylation Disorder Type 2D NGS Genetic DNA Test
Comprehensive Introduction to Glycosylation Disorder Testing
The B4GALT1 Gene Glycosylation Disorder Type 2D NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, utilizing cutting-edge next-generation sequencing technology to identify mutations in the B4GALT1 gene. This gene plays a critical role in the glycosylation process – the essential biological mechanism where sugar molecules are added to proteins to ensure proper cellular function. When this process is disrupted due to genetic mutations, it can lead to Congenital Disorders of Glycosylation (CDG), specifically Type 2D, which affects multiple organ systems and requires specialized medical management.
What This Advanced Genetic Test Detects
Our comprehensive NGS genetic test specifically targets and analyzes the B4GALT1 gene to identify pathogenic variants that cause Glycosylation Disorder Type 2D. The test examines:
- Complete sequencing of the B4GALT1 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of splice site variants affecting protein function
- Assessment of genetic variations impacting beta-1,4-galactosyltransferase enzyme activity
Clinical Significance of Test Results
The B4GALT1 gene encodes the enzyme beta-1,4-galactosyltransferase 1, which is essential for proper glycosylation of proteins. Mutations in this gene disrupt the normal addition of galactose residues to N-linked oligosaccharides, leading to impaired protein function and the characteristic symptoms of Glycosylation Disorder Type 2D.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures, hypotonia, or ataxia
- Failure to thrive and feeding difficulties in infants
- Abnormal liver function tests without clear cause
- Coagulation disorders and abnormal bleeding tendencies
- Family history of congenital disorders of glycosylation
- Unexplained metabolic abnormalities
- Suspected inherited metabolic disorders
Early Detection Benefits
Early identification through genetic testing allows for proactive management strategies, including specialized dietary interventions, targeted monitoring for complications, and appropriate genetic counseling for family planning decisions.
Significant Benefits of B4GALT1 Genetic Testing
- Accurate Diagnosis: Provides definitive molecular diagnosis for complex metabolic conditions
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning Guidance: Offers crucial information for reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely medical management to prevent complications
- Comprehensive Analysis: Utilizes advanced NGS technology for thorough genetic assessment
- Expert Interpretation: Results reviewed by board-certified genetic specialists
Understanding Your Genetic Test Results
Our comprehensive genetic report provides clear, actionable information about your B4GALT1 gene status:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the B4GALT1 gene associated with Glycosylation Disorder Type 2D. This confirmation enables:
- Development of personalized treatment plans with metabolic specialists
- Implementation of targeted monitoring for potential complications
- Genetic counseling for family members regarding inheritance patterns
- Connection with support networks and specialized care centers
Negative Result Significance
A negative result suggests that no disease-causing mutations were detected in the B4GALT1 gene. However, clinical correlation with symptoms remains essential, and additional genetic testing may be recommended based on individual circumstances.
Variant of Uncertain Significance
In some cases, genetic variations of uncertain clinical significance may be identified. Our genetic counseling team provides comprehensive guidance on the implications of such findings and recommended follow-up actions.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- 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
- Specialty: Metabolic Genetics
- Department: Genetics
Pre-Test Requirements and Preparation
To ensure optimal testing conditions and accurate results, please note the following requirements:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Identification of family members affected with glycosylation disorders
- Review of previous metabolic testing and evaluations
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 Control of Your Metabolic Health Today
Don’t let uncertainty about genetic metabolic disorders affect your quality of life. Our B4GALT1 Gene Glycosylation Disorder Type 2D NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic analysis, you can access cutting-edge diagnostic technology backed by expert interpretation and support.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing personalized medical care.
