ALG1 Gene Glycosylation Disorder Type 1K NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The ALG1 Gene Glycosylation Disorder Type 1K NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals and families affected by rare metabolic conditions. This advanced genetic analysis specifically targets mutations in the ALG1 gene, which plays a critical role in the complex process of protein glycosylation – the attachment of sugar molecules to proteins that is essential for proper cellular function throughout the body.
Understanding Glycosylation Disorders
Congenital disorders of glycosylation (CDG) represent a growing family of inherited metabolic diseases characterized by defects in the synthesis of glycoproteins and glycolipids. The ALG1 gene encodes for the enzyme dolichyl-phosphate mannosyltransferase, which is crucial for the first steps of N-linked glycosylation. When mutations occur in this gene, they disrupt the normal glycosylation pathway, leading to Type 1K glycosylation disorder – a severe condition affecting multiple organ systems.
What This Test Detects
Our NGS-based genetic test provides comprehensive analysis of the ALG1 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the ALG1 gene
- Pathogenic variants associated with glycosylation disorders
- Novel mutations that may not be documented in existing databases
Advanced NGS Technology
Utilizing next-generation sequencing technology, this test offers unparalleled accuracy in detecting genetic variations. The NGS platform provides complete coverage of the ALG1 gene coding regions, splice sites, and regulatory elements, ensuring comprehensive mutation detection with high sensitivity and specificity.
Who Should Consider This Test
This genetic test is particularly 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
- Hepatic involvement with elevated liver enzymes
- Coagulation abnormalities and bleeding tendencies
- Dysmorphic facial features associated with metabolic disorders
- Family history of glycosylation disorders or unexplained infant deaths
- Abnormal transferrin isoforms suggestive of CDG
Clinical Indications
Patients with suspected congenital disorders of glycosylation often present with multi-system involvement. Early diagnosis through genetic testing can significantly impact management strategies and improve long-term outcomes.
Benefits of ALG1 Genetic Testing
- Accurate Diagnosis: Provides definitive molecular diagnosis for complex metabolic conditions
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Personalized Management: Guides targeted treatment approaches and monitoring strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to expanding knowledge about rare metabolic disorders
- Early Intervention: Facilitates timely implementation of supportive care measures
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your ALG1 gene test results:
Positive Result
A positive result indicates the presence of pathogenic mutations in the ALG1 gene, confirming the diagnosis of glycosylation disorder type 1K. Our genetic counselors will provide detailed explanations about the specific mutation, inheritance patterns, and implications for family members.
Negative Result
A negative result suggests that no disease-causing mutations were detected in the ALG1 gene. However, this does not completely rule out a glycosylation disorder, as mutations in other genes can cause similar clinical presentations.
Variant of Uncertain Significance
In some cases, the test may identify genetic changes whose clinical significance is currently unknown. Our team provides ongoing monitoring and reclassification of these variants as new research emerges.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ALG1 Gene Glycosylation Disorder Type 1K 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 testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Creation of detailed family pedigree chart
- Review of previous metabolic testing results
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 cities. Our network of certified collection facilities ensures accessible testing 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 get answers. Our comprehensive ALG1 genetic testing provides the clarity needed for proper diagnosis and management. Our experienced genetic counselors are available to discuss your specific situation and help determine if this test is right for you.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Take control of your health journey with definitive genetic insights from America’s trusted genetics laboratory.
