ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of congenital disorders of glycosylation. This specialized genetic test focuses on identifying mutations in the ALG2 gene, which plays a critical role in the complex process of protein glycosylation—a fundamental biological mechanism essential for proper cellular function and development.
What is Glycosylation and Why Does It Matter?
Glycosylation is a vital post-translational modification process where sugar molecules (glycans) are attached to proteins and lipids. This process is crucial for:
- Protein folding and stability
- Cell-to-cell communication
- Immune system function
- Neurological development
- Metabolic regulation
When mutations occur in the ALG2 gene, they disrupt the normal glycosylation pathway, leading to Congenital Disorders of Glycosylation Type 1I—a rare but serious metabolic condition affecting multiple organ systems.
What the Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the ALG2 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Pathogenic variants associated with glycosylation disorders
- Novel genetic alterations affecting enzyme function
The test specifically examines the ALG2 gene located on chromosome 9, which encodes the alpha-1,3-mannosyltransferase enzyme essential for the proper assembly of lipid-linked oligosaccharides in the endoplasmic reticulum.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following symptoms or clinical features:
- Developmental Delays: Motor and cognitive developmental delays in infancy or early childhood
- Neurological Symptoms: Seizures, hypotonia (low muscle tone), ataxia, or intellectual disability
- Growth Abnormalities: Failure to thrive, short stature, or microcephaly
- Hepatic Involvement: Liver dysfunction, elevated liver enzymes, or hepatomegaly
- Coagulation Disorders: Abnormal bleeding tendencies or coagulation abnormalities
- Ocular Manifestations: Strabismus, nystagmus, or retinal abnormalities
- Family History: Known family history of glycosylation disorders or unexplained infant deaths
Benefits of Taking the ALG2 Genetic Test
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive diagnosis for complex metabolic conditions
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to improve outcomes
- Research Contribution: Contributes to the growing understanding of rare metabolic disorders
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides detailed analysis with the following result categories:
- Pathogenic Variants: Identified mutations known to cause glycosylation disorders—requires immediate medical follow-up and genetic counseling
- Likely Pathogenic Variants: Genetic changes strongly suspected to be disease-causing—recommends additional family studies and clinical correlation
- Variants of Uncertain Significance: Genetic alterations with unknown clinical impact—may require periodic re-evaluation as research advances
- Likely Benign Variants: Genetic changes not expected to cause disease—typically no medical action required
- Benign Variants: Common genetic polymorphisms with no clinical significance
All positive results are accompanied by detailed interpretation and recommendations for next steps, including referral to metabolic specialists and genetic counselors.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
| Specialty | Metabolic 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
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Midwest regions
- Houston and Texas metropolitan areas
- Miami and Florida locations
- Philadelphia and Northeast regions
- Phoenix and Southwest areas
- San Francisco Bay Area
Our network of certified genetic counselors and metabolic specialists ensures comprehensive care coordination regardless of your location.
Take the Next Step Toward Answers
If you or your loved one is experiencing symptoms suggestive of a glycosylation disorder, don’t wait to seek answers. Our ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate team is ready to guide you through the testing process and help you understand your results.
Early diagnosis through advanced genetic testing can make a significant difference in managing metabolic disorders and improving quality of life. Take control of your health journey with comprehensive genetic insights from General Genetics Corporation.
