ALG3 Gene Glycosylation Disorder Type 1D NGS Genetic DNA Test
Comprehensive Genetic Testing for Congenital Disorders of Glycosylation
The ALG3 Gene Glycosylation Disorder Type 1D NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals suspected of having congenital disorders of glycosylation (CDG). This specialized genetic test utilizes cutting-edge next-generation sequencing technology to analyze the ALG3 gene, which plays a critical role in the dolichol-linked oligosaccharide pathway essential for proper protein glycosylation.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets mutations in the ALG3 gene located on chromosome 3. The test identifies:
- Pathogenic variants affecting ALG3 enzyme function
- Missense, nonsense, and frameshift mutations
- Copy number variations impacting gene expression
- Single nucleotide polymorphisms associated with disease severity
- Inheritance patterns for genetic counseling purposes
The ALG3 gene encodes for the enzyme dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase, which is essential for the proper assembly of lipid-linked oligosaccharides in the endoplasmic reticulum. Mutations in this gene disrupt normal protein glycosylation, leading to the characteristic multisystem manifestations of CDG type 1D.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following clinical indications:
- Infants and children with unexplained developmental delays
- Patients with neurological symptoms including seizures, hypotonia, or ataxia
- Individuals with abnormal fat distribution or inverted nipples
- Patients with hepatic dysfunction or coagulopathies
- Children with failure to thrive and gastrointestinal symptoms
- Individuals with family history of congenital disorders of glycosylation
- Patients with abnormal transferrin isoelectric focusing patterns
- Those with multisystem involvement without clear diagnosis
Clinical Benefits of Genetic Testing
Early and accurate diagnosis through ALG3 gene testing provides numerous clinical advantages:
- Precise Diagnosis: Confirms CDG type 1D with molecular certainty
- Personalized Management: Enables targeted therapeutic interventions
- Genetic Counseling: Provides accurate recurrence risk assessment
- Family Planning: Supports informed reproductive decisions
- Prognostic Information: Helps predict disease progression and outcomes
- Research Opportunities: Connects patients with clinical trials and emerging treatments
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic variants in the ALG3 gene, confirming CDG type 1D diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results are accompanied by detailed explanations and recommendations for next steps, including referral to metabolic specialists and genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures that quality genetic testing is accessible to patients nationwide.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Review of previous metabolic testing results
- Discussion of testing implications with healthcare provider
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our ALG3 Gene Glycosylation Disorder Type 1D NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation. Our experienced genetic counselors are available to discuss your testing options, answer questions about the process, and help you take the next step toward genetic clarity.
Early diagnosis through comprehensive genetic testing can significantly impact treatment outcomes and quality of life for individuals with congenital disorders of glycosylation. Trust our expertise in metabolic genetics to provide the answers you need.
