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 cutting-edge diagnostic approach for identifying congenital disorders of glycosylation (CDG), specifically type 1M. This specialized genetic examination focuses on the DOLK gene, which plays a critical role in the dolichol kinase pathway essential for proper protein glycosylation. Glycosylation is a fundamental biological process where sugar molecules are added to proteins and lipids, significantly influencing their structure, stability, and function throughout the body.
Congenital disorders of glycosylation are rare inherited metabolic conditions that affect multiple organ systems, with neurological manifestations being particularly prominent. The DOLK gene mutation leads to impaired dolichol phosphate synthesis, disrupting the initial steps of N-linked glycosylation. This disruption can result in severe multisystem complications, making early and accurate diagnosis crucial for appropriate medical management and intervention strategies.
What the Test Measures and Detects
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the DOLK gene for pathogenic variants. The test specifically detects:
- Point mutations, insertions, and deletions in the DOLK gene coding regions
- Missense, nonsense, and frameshift mutations affecting dolichol kinase function
- Genetic variations that disrupt the normal glycosylation pathway
- Inheritance patterns through comprehensive genetic analysis
- Both homozygous and compound heterozygous mutations
The NGS methodology provides high-resolution genetic data, enabling precise identification of even subtle genetic alterations that might be missed by conventional testing methods. This comprehensive approach ensures maximum detection sensitivity for DOLK-related glycosylation disorders.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is particularly recommended for individuals presenting with the following clinical features:
- Infants and children with unexplained developmental delays
- Patients exhibiting neurological symptoms including seizures, hypotonia, or ataxia
- Individuals with abnormal liver function tests of unknown etiology
- Patients with coagulopathy or bleeding disorders without clear cause
- Children with failure to thrive and gastrointestinal complications
- Individuals with family history of congenital disorders of glycosylation
- Patients with unexplained multisystem involvement
- Siblings of diagnosed DOLK mutation carriers
Special Considerations
Early testing is particularly crucial for newborns and young children showing developmental concerns, as timely intervention can significantly impact long-term outcomes. Genetic counseling is strongly recommended before testing to discuss implications, inheritance patterns, and potential outcomes.
Benefits of DOLK Gene Testing
Undergoing the DOLK Gene Glycosylation Disorder Type 1M NGS Genetic DNA Test provides numerous significant advantages:
- Accurate Diagnosis: Provides definitive molecular confirmation of DOLK-related glycosylation disorders
- Early Intervention: Enables prompt implementation of targeted management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of individualized therapeutic approaches
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to broader understanding of rare genetic disorders
- Peace of Mind: Provides clarity and reduces diagnostic uncertainty for families
Understanding Your Test Results
Interpretation Guidelines
Test results are carefully analyzed and interpreted by our team of board-certified genetic specialists. Understanding your results involves several key considerations:
- Positive Result: Indicates the presence of pathogenic DOLK gene mutations consistent with congenital disorder of glycosylation type 1M diagnosis
- Negative Result: Suggests absence of detectable DOLK mutations, though does not completely rule out other glycosylation disorders
- Variant of Uncertain Significance: Identifies genetic changes whose clinical impact requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without exhibiting symptoms
Post-Test Guidance
All positive results include comprehensive genetic counseling to discuss implications, management strategies, and family testing recommendations. Our genetic counselors provide detailed explanations of inheritance patterns, recurrence risks, and available support resources.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- 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: Neurological Genetics
- Department: Genetics
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with glycosylation disorders
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas. Our state-of-the-art facilities in New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose ensure accessible testing for patients nationwide. Each location maintains the same high standards of genetic testing excellence and patient care.
Take Action Today
Don’t let diagnostic uncertainty delay proper care and management. Our expert team of genetic specialists is ready to provide comprehensive DOLK gene testing with complete genetic counseling support. Early diagnosis can significantly impact treatment outcomes and quality of life for individuals with glycosylation disorders.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your DOLK Gene Glycosylation Disorder Type 1M NGS Genetic DNA Test. Our genetic counselors are available to answer your questions and guide you through the testing process with compassion and expertise.
Take the first step toward clarity and comprehensive care for neurological genetic conditions. Contact us now to begin your journey to accurate diagnosis and personalized management strategies.
