AGPAT2 Gene Lipodystrophy generalized type 1 NGS Genetic Test
Short Name: AGPAT2 Lipodystrophy Test
Also known as: Congenital Generalized Lipodystrophy Type 1, Berardinelli-Seip Syndrome Type 1
AGPAT2 Gene Lipodystrophy generalized type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the AGPAT2 gene associated with generalized lipodystrophy type 1, enabling accurate diagnosis, genetic counseling, and personalized treatment planning to manage metabolic complications effectively.
- Test Code
- 4722
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS (Next-Generation Sequencing)
Sample Collection
No specific preparation is required. Inform the healthcare provider about any medications, supplements, or medical history prior to sample collection.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected from a vein in your arm using standard venipuncture techniques by a trained phlebotomist.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball or bandage to stop bleeding. You can resume normal activities immediately after.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the AGPAT2 gene associated with generalized lipodystrophy type 1, enabling accurate diagnosis, genetic counseling, and personalized treatment planning to manage metabolic complications effectively.
How to Prepare
- Ensure the patient is well-hydrated before sample collection
- Use sterile equipment and follow aseptic techniques
- Label the sample correctly with patient details and test information
- Transport the sample to the laboratory at ambient room temperature as specified
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This genetic test is crucial for diagnosing generalized lipodystrophy type 1, enabling early intervention to manage metabolic complications and improve patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic sample
- Insufficient sample volume
- Improperly labeled or contaminated sample
Understanding Your Results
No pathogenic variant detected
Suggests a low likelihood of AGPAT2-related generalized lipodystrophy type 1, but clinical correlation is recommended if symptoms persist.
Pathogenic variant detected
Confirms a diagnosis of generalized lipodystrophy type 1 due to AGPAT2 gene mutations, guiding further management and genetic counseling.
Consult a doctor if you or a family member exhibits symptoms such as lack of subcutaneous fat, insulin resistance, high triglycerides, or other signs of lipodystrophy, or if genetic testing is recommended based on clinical evaluation.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Results require interpretation by a qualified geneticist or healthcare provider
- ⚠Not a substitute for comprehensive clinical evaluation and family history assessment
Risks & Considerations
- ●Minimal risk associated with blood draw, such as slight pain, bruising, or infection at the puncture site
- ●Emotional impact of genetic results, which may require counseling support
Interfering Factors
- ●Sample contamination
- ●DNA degradation due to improper handling
- ●Technical errors in sequencing or analysis
Frequently Asked Questions
What is the AGPAT2 Gene Lipodystrophy Generalized Type 1 NGS Genetic Test?
What are the symptoms of AGPAT2 gene lipodystrophy?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
Who should consider this test?
What do the results mean?
Is genetic counseling provided?
Are there any risks to the test?
Can this test diagnose other types of lipodystrophy?
How do I book the test?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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