DOLK Gene Glycosylation Disorder Type 1M NGS Genetic DNA Test
Comprehensive Introduction to DOLK Gene Testing
The DOLK Gene Glycosylation Disorder Type 1M NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, specifically targeting congenital disorders of glycosylation (CDG). This advanced genetic test focuses on identifying mutations in the DOLK gene, which plays a crucial role in the dolichol kinase pathway essential for proper protein glycosylation. Glycosylation disorders represent a group of rare inherited metabolic conditions that affect multiple organ systems, making early and accurate diagnosis vital for effective management and treatment planning.
What This Test Measures and Detects
Our comprehensive NGS-based test specifically targets:
- Complete sequencing of the DOLK gene to identify pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) affecting dolichol kinase function
- Identification of insertions, deletions, and missense mutations
- Assessment of genetic variations that disrupt N-linked glycosylation pathways
- Evaluation of mutations leading to dolichol phosphate synthesis impairment
Advanced NGS Technology
Utilizing state-of-the-art Next Generation Sequencing technology, this test provides unparalleled accuracy in detecting even the most subtle genetic variations. Our methodology ensures comprehensive coverage of the entire DOLK gene coding region, including all exons and flanking intronic regions, delivering results with 99% clinical sensitivity and specificity.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Unexplained developmental delays and neurological symptoms
- Multiple system involvement including hepatic, cardiac, and renal abnormalities
- Family history of congenital disorders of glycosylation
- Infants with failure to thrive and feeding difficulties
- Patients with abnormal transferrin glycosylation patterns
- Individuals with suspected metabolic disorders of unknown etiology
- Children presenting with seizures, hypotonia, or stroke-like episodes
Clinical Indications
Healthcare providers should consider ordering this test when patients exhibit complex multisystem disorders that don’t fit typical diagnostic patterns, especially when routine metabolic screening yields inconclusive results.
Significant Benefits of DOLK Gene Testing
- Early and Accurate Diagnosis: Enables precise identification of glycosylation disorders for timely intervention
- Personalized Treatment Planning: Guides development of targeted management strategies
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Elimination of Diagnostic Odyssey: Reduces unnecessary testing and medical expenses
- Therapeutic Monitoring: Assists in evaluating treatment effectiveness over time
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the DOLK gene, confirming a diagnosis of Glycosylation Disorder Type 1M. This finding enables:
- Implementation of targeted therapeutic interventions
- Specialized nutritional management strategies
- Regular monitoring for potential complications
- Family member testing and genetic counseling
Negative Result Interpretation
A negative result suggests that no pathogenic variants were detected in the DOLK gene. However, this doesn’t completely rule out glycosylation disorders, as other genetic causes may be involved. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
If a genetic variation of uncertain clinical significance is identified, our genetic counselors provide detailed guidance on interpretation and potential next steps, including family studies when appropriate.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next Generation Sequencing (NGS) Technology
- Specialty: Metabolic Genetics
- Department: Genetics
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of potential implications with healthcare provider
- Understanding of insurance coverage and out-of-pocket costs
Nationwide 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 genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take Action Today
Don’t let uncertainty about metabolic disorders delay proper diagnosis and treatment. Our DOLK Gene Glycosylation Disorder Type 1M NGS Genetic DNA Test provides the clarity you need for informed medical decisions. With our discounted price of $500 USD and comprehensive nationwide coverage, accessing advanced genetic testing has never been more convenient.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Take the first step toward understanding your genetic health and securing the proper care you deserve. Early detection through advanced genetic testing can make a significant difference in managing glycosylation disorders effectively.
