ALG9 Gene Glycosylation Disorder Type 1L NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The ALG9 Gene Glycosylation Disorder Type 1L NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic conditions. This advanced testing methodology employs next-generation sequencing technology to identify specific mutations in the ALG9 gene that are responsible for congenital disorders of glycosylation type 1L. These rare but serious metabolic conditions affect the body’s ability to properly modify proteins with sugar molecules, a process essential for normal cellular function and development.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets:
- Mutations in the ALG9 gene located on chromosome 11
- Variants affecting dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichyl mannosyltransferase activity
- Genetic abnormalities disrupting the glycosylation pathway
- Inheritance patterns for autosomal recessive conditions
- Specific nucleotide changes affecting enzyme function
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures or hypotonia
- Failure to thrive despite adequate nutrition
- Abnormal liver function tests without clear cause
- Coagulation disorders or bleeding tendencies
- Family history of congenital disorders of glycosylation
- Multiple system involvement suggesting metabolic disease
- Unexplained hypoglycemia or metabolic crises
Significant Benefits of Genetic Testing
Undergoing the ALG9 Gene Glycosylation Disorder Type 1L test provides numerous advantages:
- Accurate Diagnosis: Precise identification of the underlying genetic cause
- Personalized Treatment: Targeted interventions based on specific genetic findings
- Family Planning: Essential information for genetic counseling and reproductive decisions
- Early Intervention: Opportunity for timely management to improve outcomes
- Disease Prognosis: Better understanding of disease progression and potential complications
- Research Contribution: Participation in advancing medical knowledge about rare disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates the presence of ALG9 gene mutations associated with glycosylation disorder type 1L, requiring specialized medical management
- Negative Result: Suggests absence of known pathogenic variants in the ALG9 gene, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic metabolic disorders affect your health decisions. Our ALG9 Gene Glycosylation Disorder Type 1L NGS Genetic DNA Test provides the answers you need for informed medical care. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing convenient and accessible.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our experienced genetic specialists are ready to guide you through the testing process and help you understand your results.
