AGPAT2 Gene Lipodystrophy Generalized Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The AGPAT2 Gene Lipodystrophy Generalized Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This advanced testing methodology utilizes next-generation sequencing (NGS) technology to identify mutations in the AGPAT2 gene, which plays a critical role in lipid metabolism and fat cell development. Congenital generalized lipodystrophy type 1 is a rare autosomal recessive disorder characterized by near-complete absence of adipose tissue from birth, leading to severe metabolic complications that require early intervention and specialized management.
What This Test Measures and Detects
This comprehensive genetic test specifically targets the AGPAT2 gene, which encodes 1-acylglycerol-3-phosphate O-acyltransferase 2, an essential enzyme in triglyceride synthesis. The test detects:
- Point mutations, deletions, and insertions in the AGPAT2 gene
- Single nucleotide variants (SNVs) affecting protein function
- Frameshift mutations that disrupt normal gene expression
- Pathogenic variants associated with congenital generalized lipodystrophy
- Genetic markers for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Newborns and children with apparent absence of subcutaneous fat
- Individuals with severe insulin resistance and diabetes mellitus
- Patients with acanthosis nigricans and hypertriglyceridemia
- Those with hepatomegaly and fatty liver disease
- Individuals with family history of lipodystrophy or metabolic disorders
- Patients with accelerated growth and muscular appearance
- Women with polycystic ovary syndrome and metabolic abnormalities
- Individuals with unexplained hyperphagia and increased metabolic rate
Significant Benefits of AGPAT2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms congenital generalized lipodystrophy type 1 with high precision
- Early Intervention: Enables prompt management of metabolic complications
- Personalized Treatment: Guides targeted therapeutic approaches including leptin replacement therapy
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Indicates pathogenic mutations in the AGPAT2 gene, confirming congenital generalized lipodystrophy type 1 diagnosis
- Negative Result: Suggests absence of detectable AGPAT2 mutations, though other genetic forms of lipodystrophy may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of the mutated gene without showing symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | AGPAT2 Gene Lipodystrophy Generalized Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Metabolic Genetics |
Pre-Test Requirements and Preparation
To ensure optimal testing conditions and accurate results, please note the following requirements:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Documentation of family members affected with lipodystrophy symptoms
- Fasting not required for blood sample collection
- Informed consent for genetic testing
Nationwide Accessibility
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. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic disorders affect your health decisions. Our AGPAT2 Gene Lipodystrophy Generalized Type 1 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With advanced NGS technology and expert genetic analysis, you can gain crucial insights into your metabolic health.
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 team of genetic specialists is ready to guide you through the testing process, explain your results in detail, and connect you with appropriate medical resources for comprehensive care. Early genetic diagnosis can significantly improve long-term outcomes for individuals with congenital generalized lipodystrophy.
