CAVIN1 Gene Lipodystrophy Generalized Type 4 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Metabolic Disorders
The CAVIN1 Gene Lipodystrophy Generalized Type 4 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare metabolic conditions. This advanced genetic test specifically targets mutations in the CAVIN1 gene, which plays a critical role in lipid metabolism and adipose tissue development. Lipodystrophy generalized type 4 is an autosomal recessive disorder characterized by the progressive loss of adipose tissue throughout the body, leading to severe metabolic complications that can significantly impact quality of life and long-term health outcomes.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the entire coding region of the CAVIN1 gene to identify:
- Pathogenic variants and mutations in the CAVIN1 gene
- Single nucleotide polymorphisms (SNPs) associated with lipodystrophy
- Insertions, deletions, and frameshift mutations
- Copy number variations affecting gene function
- Compound heterozygous mutations in autosomal recessive inheritance patterns
The CAVIN1 gene encodes caveolae-associated protein 1, which is essential for the formation and function of caveolae – specialized membrane structures in adipocytes. Mutations in this gene disrupt normal fat storage and distribution, leading to the characteristic features of generalized lipodystrophy type 4.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Progressive loss of subcutaneous fat from face, trunk, and extremities
- Severe insulin resistance developing in childhood or early adulthood
- Early-onset diabetes mellitus despite normal body weight
- Hypertriglyceridemia and pancreatitis episodes
- Non-alcoholic fatty liver disease (NAFLD) or hepatic steatosis
- Acanthosis nigricans (dark, velvety skin patches)
- Family history of similar metabolic abnormalities
- Unexplained metabolic syndrome in lean individuals
- Consanguineous parents or siblings with similar symptoms
Clinical Benefits of Genetic Testing
Undergoing the CAVIN1 Gene Lipodystrophy Generalized Type 4 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out generalized lipodystrophy type 4 with high accuracy
- Personalized Treatment: Enables targeted therapeutic approaches for metabolic complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of diabetes, hyperlipidemia, and liver complications
- Disease Monitoring: Establishes baseline for tracking disease progression and treatment response
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies pathogenic mutations in the CAVIN1 gene, confirming generalized lipodystrophy type 4 diagnosis
- Negative Result: No disease-causing variants detected, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
All results include detailed interpretation by our board-certified genetic specialists and recommendations for clinical management. Genetic counseling is provided to help patients and families understand the implications of their results.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CAVIN1 Gene Lipodystrophy Generalized Type 4 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 |
| Specialty | Metabolic Genetics |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic testing facilities ensures accessible, high-quality diagnostic services for patients throughout the country.
Take Control of Your Metabolic Health Today
Don’t let unexplained metabolic symptoms compromise your health and quality of life. Our CAVIN1 Gene Lipodystrophy Generalized Type 4 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and targeted treatment. With our special discounted price of only $500 USD, advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your metabolic health. Our genetic specialists are ready to guide you through the testing process and help you interpret your results for optimal health management.
