DPM2 Gene Glycosylation Disorder Type 1U NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The DPM2 Gene Glycosylation Disorder Type 1U NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, utilizing advanced next-generation sequencing technology to identify specific genetic mutations associated with congenital disorders of glycosylation. This specialized test targets the DPM2 gene, which plays a critical role in the dolichol phosphate mannose biosynthesis pathway essential for proper protein glycosylation.
What This Test Measures and Detects
This comprehensive genetic analysis specifically identifies:
- Pathogenic variants in the DPM2 gene responsible for glycosylation disorders
- Specific mutations affecting dolichol-phosphate mannosyltransferase subunit 2
- Genetic abnormalities disrupting N-linked glycosylation processes
- Inherited metabolic disorder patterns through family genetic analysis
- Risk assessment for congenital disorders of glycosylation type 1U
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures or movement disorders
- Abnormal liver function tests without clear etiology
- Coagulation abnormalities and bleeding tendencies
- Family history of metabolic disorders or glycosylation defects
- Multiple system involvement suggesting congenital metabolic disease
- Failure to thrive in infancy with multisystem complications
Clinical Benefits of DPM2 Genetic Testing
Undergoing this specialized genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of DPM2 gene mutations enables definitive diagnosis
- Personalized Treatment: Results guide targeted therapeutic interventions and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt treatment initiation to prevent disease progression
- Comprehensive Understanding: Offers insights into disease mechanisms and prognosis
- Research Contribution: Supports ongoing medical research in metabolic genetics
Understanding Your Test Results
Our comprehensive genetic report includes:
- Detailed analysis of DPM2 gene variants and their clinical significance
- Interpretation of identified mutations in context of glycosylation disorders
- Professional genetic counseling recommendations based on findings
- Family member testing guidance when pathogenic variants are detected
- Long-term monitoring and management strategies
- Referral to metabolic specialists for comprehensive care coordination
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | DPM2 Gene Glycosylation Disorder Type 1U NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing procedures
- Coordination with referring physicians for integrated care
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 numerous other cities. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic symptoms delay proper diagnosis and treatment. Our specialized DPM2 genetic testing provides the answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your metabolic health journey.
Our experienced genetic counselors and metabolic specialists are ready to guide you through the testing process, interpret your results, and develop personalized management strategies based on your unique genetic profile.
