GPD1 Gene Hypertriglyceridemia Transient Infantile NGS Genetic DNA Test
Comprehensive Genetic Analysis for Infant Lipid Metabolism Disorders
The GPD1 Gene Hypertriglyceridemia Transient Infantile NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, specifically designed to identify mutations in the GPD1 gene that cause transient infantile hypertriglyceridemia. This rare genetic disorder affects lipid metabolism in infants, leading to potentially severe health complications if left undiagnosed. Our advanced testing methodology provides families and healthcare providers with definitive genetic information crucial for early intervention and personalized treatment strategies.
What This Test Measures and Detects
This specialized genetic test employs Next-Generation Sequencing (NGS) technology to comprehensively analyze the GPD1 gene, which encodes glycerol-3-phosphate dehydrogenase 1. This enzyme plays a vital role in the glycerol phosphate shuttle, essential for lipid metabolism and energy production. The test specifically identifies:
- Pathogenic variants and mutations in the GPD1 gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and copy number variations
- Compound heterozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This test is particularly recommended for infants and young children presenting with the following symptoms or clinical indications:
- Severe hypertriglyceridemia in infancy (triglyceride levels > 1000 mg/dL)
- Transient lipid metabolism disturbances
- Hepatomegaly (enlarged liver) without clear etiology
- Failure to thrive or growth retardation
- Family history of lipid metabolism disorders
- Suspected inherited metabolic diseases
- Unexplained metabolic acidosis
- Developmental delays associated with metabolic issues
Clinical Benefits of GPD1 Genetic Testing
Early genetic diagnosis through this comprehensive test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of transient infantile hypertriglyceridemia
- Personalized Treatment: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning: Offers crucial information for genetic counseling and family planning decisions
- Prognostic Information: Helps predict disease course and potential complications
- Preventive Care: Facilitates early intervention to prevent long-term organ damage
- Research Contribution: Contributes to ongoing research in pediatric metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results with clear clinical guidance:
- Positive Result: Indicates the presence of pathogenic mutations in the GPD1 gene, confirming the diagnosis of transient infantile hypertriglyceridemia. Our genetic counselors will provide detailed management recommendations.
- Negative Result: Suggests that no known pathogenic mutations were detected in the GPD1 gene, though clinical correlation with symptoms is essential.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact, requiring ongoing monitoring and potential family studies.
- Carrier Status: May identify individuals carrying one copy of a mutated gene, important for family planning considerations.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | GPD1 Gene Hypertriglyceridemia Transient Infantile NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
| Specialties Involved | Genetics, Hepatology, Nephrology, Endocrinology |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services 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, San Jose, and many more. Our network of certified collection centers ensures accessible testing for families nationwide.
Pre-Test Requirements and Genetic Counseling
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of a detailed family pedigree chart
- Discussion of potential outcomes and management strategies
- Informed consent process for genetic testing
Take the First Step Toward Genetic Clarity
Don’t let uncertainty about your child’s health continue. Our GPD1 Gene Hypertriglyceridemia Transient Infantile NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive nationwide coverage, accessing advanced genetic testing has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your family’s health journey.
Our team of genetic specialists is ready to guide you through the testing process, provide comprehensive result interpretation, and connect you with appropriate medical resources for ongoing care and management.
