ALG6 Gene Glycosylation Disorder Type 1C NGS Genetic DNA Test
Understanding ALG6 Gene Glycosylation Disorders
Congenital Disorders of Glycosylation (CDG) represent a group of rare genetic conditions affecting the complex process of protein and lipid glycosylation. The ALG6 Gene Glycosylation Disorder Type 1C specifically involves mutations in the ALG6 gene, which encodes an enzyme critical for the proper assembly of sugar chains on proteins. This disruption in glycosylation can lead to severe neurological complications and multisystem involvement, making early diagnosis essential for proper management and treatment planning.
What This Advanced Genetic Test Measures
Our comprehensive NGS Genetic DNA Test specifically targets the ALG6 gene to identify pathogenic variants responsible for Glycosylation Disorder Type 1C. The test utilizes cutting-edge Next-Generation Sequencing technology to analyze the entire coding region of the ALG6 gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Complex rearrangements affecting gene function
Who Should Consider ALG6 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of congenital glycosylation disorders, including:
- Infants and children with unexplained neurological symptoms
- Patients with developmental delays and intellectual disability
- Individuals with abnormal coagulation profiles
- Patients with liver dysfunction of unknown origin
- Those with family history of glycosylation disorders
- Individuals with abnormal transferrin electrophoresis patterns
Clinical Indications and Symptom Presentation
Patients with ALG6-related disorders typically present with a spectrum of symptoms that may include:
- Neurological abnormalities including seizures and hypotonia
- Developmental delay and intellectual disability
- Failure to thrive in infancy
- Coagulation abnormalities and bleeding tendencies
- Hepatic involvement and elevated liver enzymes
- Ocular abnormalities and strabismus
- Skeletal abnormalities and joint contractures
Significant Benefits of ALG6 Genetic Testing
Undergoing ALG6 Gene Glycosylation Disorder testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive diagnosis for complex neurological symptoms
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Personalized Treatment: Guides targeted therapeutic interventions
- Prognostic Information: Helps predict disease progression and outcomes
- Early Intervention: Facilitates timely management of symptoms
- Research Contribution: Contributes to understanding rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your ALG6 test results:
- Positive Result: Indicates presence of pathogenic ALG6 variants confirming diagnosis
- Negative Result: Suggests ALG6 mutations are not the cause of symptoms
- Variant of Uncertain Significance: Requires additional family studies and follow-up
- Carrier Status: Identifies individuals with one copy of mutated gene
All results include detailed interpretation by our board-certified genetic specialists and recommendations for next steps in management and family screening.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
GGC DNA maintains testing facilities across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our ALG6 Gene Glycosylation Disorder Type 1C NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With rapid 3-4 week turnaround time and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Ready to begin your genetic health journey? Contact our genetic specialists today at +1(267) 388-9828 or schedule your consultation online. Take the first step toward understanding your genetic makeup and securing your family’s health future.
