BSCL2 Gene Lipodystrophy Generalized Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The BSCL2 Gene Lipodystrophy Generalized Type 2 NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic conditions. This advanced genetic screening utilizes Next Generation Sequencing technology to identify mutations in the BSCL2 (Berardinelli-Seip congenital lipodystrophy 2) gene, which plays a critical role in lipid metabolism and fat distribution throughout the body.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the BSCL2 gene located on chromosome 11q13, which encodes the protein seipin. The test identifies:
- Pathogenic variants and mutations in the BSCL2 gene
- Single nucleotide polymorphisms affecting lipid metabolism
- Deletions, insertions, and copy number variations
- Genetic markers associated with congenital generalized lipodystrophy type 2
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test
This test is particularly important for individuals presenting with:
- Progressive loss of subcutaneous fat from birth or early childhood
- Severe insulin resistance and early-onset diabetes
- Hypertriglyceridemia and lipid abnormalities
- Non-alcoholic fatty liver disease
- Muscular hypertrophy and acromegalic features
- Family history of lipodystrophy or metabolic disorders
- Unexplained metabolic complications despite normal body weight
Clinical Benefits of Genetic Testing
Undergoing the BSCL2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms congenital generalized lipodystrophy type 2 with precision
- Personalized Treatment: Enables targeted therapeutic interventions for metabolic complications
- Genetic Counseling: Provides essential information for family planning and inheritance risk assessment
- Early Intervention: Facilitates proactive management of diabetes, hyperlipidemia, and liver complications
- Disease Monitoring: Establishes baseline for ongoing metabolic health surveillance
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and metabolic specialists:
- Positive Result: Indicates the presence of pathogenic BSCL2 gene mutations confirming congenital generalized lipodystrophy type 2 diagnosis
- Negative Result: Suggests absence of detectable BSCL2 mutations, though other genetic forms of lipodystrophy may require additional testing
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry a single copy of the mutated gene, important for family planning decisions
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your BSCL2 genetic test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
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 many more. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take Control of Your Metabolic Health
Don’t let unexplained metabolic symptoms compromise your quality of life. The BSCL2 Gene Lipodystrophy Generalized Type 2 NGS Genetic DNA Test provides the clarity needed for effective management of this complex metabolic disorder. Our team of genetic specialists and metabolic physicians are ready to guide you through every step of the testing process.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your metabolic health and developing a personalized treatment plan.
