BSCL2 Gene Lipodystrophy generalized type 2 NGS Genetic Test
Short Name: BSCL2 Gene Test
Also known as: Congenital Generalized Lipodystrophy Type 2, Berardinelli-Seip Syndrome Type 2
BSCL2 Gene Lipodystrophy generalized type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the BSCL2 Gene Lipodystrophy Generalized Type 2 NGS Genetic Test is to confirm a diagnosis of generalized lipodystrophy type 2 by identifying mutations in the BSCL2 gene. This aids in early detection, appropriate management of metabolic symptoms, genetic counseling for families, and informed decision-making regarding treatment and lifestyle adjustments.
- Test Code
- 2129
- ICD Code
- E88.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and family pedigree as advised during genetic counseling. No specific fasting is required.
Method: Venipuncture
Laboratory Analysis
A blood sample is drawn from a vein in the arm using standard venipuncture. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the BSCL2 Gene Lipodystrophy Generalized Type 2 NGS Genetic Test is to confirm a diagnosis of generalized lipodystrophy type 2 by identifying mutations in the BSCL2 gene. This aids in early detection, appropriate management of metabolic symptoms, genetic counseling for families, and informed decision-making regarding treatment and lifestyle adjustments.
How to Prepare
- Use sterile equipment for blood collection
- Label samples correctly with patient details
- Transport samples at ambient temperature as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of BSCL2 mutations is essential for managing lipodystrophy and preventing metabolic complications like diabetes and hypertriglyceridemia."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Incorrectly labeled or insufficient sample volume
- Samples collected in improper containers
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of generalized lipodystrophy type 2. Recommend metabolic monitoring and genetic counseling.
No pathogenic variant detected
BSCL2-related lipodystrophy unlikely. Consider other genetic or non-genetic causes if symptoms persist.
Variant of uncertain significance (VUS)
Further evaluation and family studies may be needed. Consult a geneticist for guidance.
Consult a healthcare provider if you experience symptoms like unexplained fat loss, diabetes, high triglycerides, or have a family history of lipodystrophy. After receiving test results, seek genetic counseling to understand implications and management options.
Limitations
- ⚠May not detect all rare variants or complex rearrangements
- ⚠Requires genetic counseling for interpretation
- ⚠Results are diagnostic only when correlated with clinical findings
Risks & Considerations
- ●Minor discomfort or bruising at the blood draw site
- ●Minimal risk of infection
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Improper sample storage or handling
Frequently Asked Questions
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