PPARG Gene Lipodystrophy, familial partial, type 3 NGS Genetic Test
Short Name: PPARG FPLD3 NGS Test
Also known as: PPARG Gene Mutation Test, Familial Partial Lipodystrophy Type 3 Genetic Test, FPLD3 NGS Test, PPARG Sequencing Test, Dunnigan-like Partial Lipodystrophy Genetic Test
PPARG Gene Lipodystrophy, familial partial, type 3 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 from the date of sample receipt at the laboratory. 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 PPARG Gene Lipodystrophy, Familial Partial, Type 3 NGS Genetic Test is to identify pathogenic mutations in the PPARG gene that cause familial partial lipodystrophy type 3. This test aids in confirming a clinical diagnosis, differentiating FPLD3 from other forms of lipodystrophy and metabolic syndrome, guiding personalised treatment strategies, enabling cascade testing of at-risk family members, and supporting genetic counselling regarding recurrence risk and family planning decisions.
- Test Code
- 2131
- CPT Code
- 81405
- 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 from the date of sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A genetic counselling session is recommended before sample collection to document the clinical history, family pedigree, and obtain informed consent.
Method: Venipuncture
Laboratory Analysis
A blood sample (3-5 mL) is collected via venipuncture into an EDTA vacutainer (lavender top). Alternatively, a single drop of blood may be collected on an FTA card or previously extracted DNA may be submitted.
Report Delivery
Label the sample correctly with patient details and transport at ambient room temperature to the laboratory. Avoid freezing the sample. Reports are typically available within 3 to 4 weeks.
Timeline: 3 to 4 Weeks from the date of sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PPARG Gene Lipodystrophy, Familial Partial, Type 3 NGS Genetic Test is to identify pathogenic mutations in the PPARG gene that cause familial partial lipodystrophy type 3. This test aids in confirming a clinical diagnosis, differentiating FPLD3 from other forms of lipodystrophy and metabolic syndrome, guiding personalised treatment strategies, enabling cascade testing of at-risk family members, and supporting genetic counselling regarding recurrence risk and family planning decisions.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (Lavender Top) vacutainer under aseptic conditions
- Alternatively, collect one drop of blood on the provided FTA Card and allow it to dry completely
- Previously extracted DNA (minimum 50 ng/µL, A260/280 ratio 1.8-2.0) may also be submitted
- Label the sample container with patient name, date of collection, and unique identifier
- Transport the sample at ambient room temperature; do not freeze
- Ensure a completed test requisition form and signed consent form accompany the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Familial partial lipodystrophy type 3 caused by PPARG mutations often presents with metabolic complications including severe insulin resistance, hypertriglyceridemia, and early-onset diabetes. Early genetic diagnosis allows for proactive metabolic management, lifestyle counselling, and screening of at-risk family members. Patients with confirmed PPARG mutations should be monitored regularly for cardiovascular risk factors and pancreatic complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labelling
- Haemolysed, clotted, or insufficient quantity of blood sample
- Sample collected in wrong container type (non-EDTA)
- Sample received without completed requisition form or consent
- Contaminated or degraded DNA with A260/280 ratio outside 1.6-2.2
Understanding Your Results
Pathogenic or Likely Pathogenic Variant Detected
A pathogenic or likely pathogenic variant in the PPARG gene has been identified, consistent with a diagnosis of familial partial lipodystrophy type 3 (FPLD3). This confirms the genetic basis of the patient's condition. Cascade testing of first-degree family members is recommended. The patient should be managed with regular metabolic monitoring, lipid profiling, glucose tolerance assessment, and appropriate therapeutic interventions.
Variant of Uncertain Significance (VUS)
A variant of uncertain significance has been detected in the PPARG gene. Current evidence is insufficient to classify this variant as pathogenic or benign. Clinical correlation, family segregation analysis, and functional studies may be required. Repeat analysis or consultation with a clinical geneticist is recommended. Management decisions should not be based solely on a VUS result.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the PPARG gene. This result reduces the likelihood of FPLD3 but does not completely exclude lipodystrophy, as mutations in other genes (LMNA, AGPAT2, BSCL2, PTRF, PLIN1, AKT2) can cause similar phenotypes. Additional genetic testing or clinical evaluation may be warranted if clinical suspicion remains high.
Consult your doctor or a clinical geneticist if you experience unexplained loss of fat from the arms, legs, or face, develop severe insulin resistance or diabetes at a young age, have persistently elevated triglycerides, experience recurrent episodes of pancreatitis, or have a family history of lipodystrophy or unexplained metabolic disorders. Early diagnosis and management can help prevent serious metabolic complications including cardiovascular disease and pancreatitis.
Limitations
- ⚠This test analyses only the PPARG gene and does not screen for mutations in other genes associated with lipodystrophy (e.g., LMNA, AGPAT2, BSCL2, PTRF, PLIN1, AKT2)
- ⚠Large genomic rearrangements, copy number variations, and deep intronic variants may not be fully detected by standard NGS sequencing
- ⚠Variants of Uncertain Significance (VUS) may be reported and require clinical correlation and possible family segregation studies
- ⚠A negative result does not exclude lipodystrophy caused by mutations in other genes
- ⚠Genotype-phenotype correlations may not always be predictable due to variable expressivity and incomplete penetrance
Risks & Considerations
- ●Minimal risk associated with blood collection: slight bruising or discomfort at the venipuncture site
- ●Emotional impact of genetic diagnosis may require psychological support and counselling
- ●Genetic test results may have implications for family members and may affect insurance or employment considerations
Interfering Factors
- ●Degraded or low-quality DNA extracted from improperly stored samples may affect sequencing quality
- ●Recent blood transfusions within the past 4 weeks may lead to mixed DNA profiles and ambiguous results
- ●Presence of highly homologous pseudogenes may interfere with read alignment in rare cases
- ●Haemolysed or lipaemic blood samples may reduce DNA extraction yield
Compare With Similar Tests
| Test | PPARG Gene Lipodystrophy, familial partial, type 3 NGS Genetic Test | LMNA Gene Lipodystrophy NGS Test | Comprehensive Lipodystrophy Gene Panel | LMNA Gene NGS Genetic Test | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | PPARG Gene Lipodystrophy, familial partial, type 3 NGS Genetic Test |
Frequently Asked Questions
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