GPD1 Gene Hypertriglyceridemia, transient infantile NGS Genetic Test
GPD1 Gene Hypertriglyceridemia, transient infantile NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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
To detect pathogenic mutations in the GPD1 gene associated with transient infantile hypertriglyceridemia, enabling accurate diagnosis, personalized treatment, and genetic counseling for affected individuals and families.
- Test Code
- 5427
- 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
- NGS Technology
Sample Collection
Ensure a genetic counseling session is scheduled to discuss family history and draw a pedigree chart. Provide clinical history of the patient.
Method: Venipuncture or FTA Card
Laboratory Analysis
Sample collection via venipuncture for blood or use of FTA card for one drop of blood. No fasting required.
Report Delivery
Store sample at ambient room temperature and transport to the laboratory promptly. Results will be available online after 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the GPD1 gene associated with transient infantile hypertriglyceridemia, enabling accurate diagnosis, personalized treatment, and genetic counseling for affected individuals and families.
How to Prepare
- Collect blood sample using standard venipuncture techniques.
- Alternatively, use an FTA card with one drop of blood.
- Label the sample correctly with patient details.
- Maintain ambient temperature during storage and transport.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is essential for identifying genetic mutations in the GPD1 gene, which can cause transient infantile hypertriglyceridemia, aiding in early diagnosis and management to prevent complications like pancreatitis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of GPD1 gene-related hypertriglyceridemia. Recommend genetic counseling and targeted treatment.
Action: Consult a geneticist or endocrinologist for management.
Negative for pathogenic variant
No mutations detected in the GPD1 gene. Consider other genetic or non-genetic causes of hypertriglyceridemia.
Action: Further clinical evaluation and additional testing may be needed.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical significance is unclear. Requires further investigation and family studies.
Action: Genetic counseling and follow-up testing recommended.
Consult a doctor if you or your child experience symptoms such as persistent abdominal pain, unexplained high triglycerides, or have a family history of hypertriglyceridemia. Genetic counseling is advised before and after testing.
Limitations
- ⚠This test only analyzes the GPD1 gene and may not detect mutations in other genes associated with hypertriglyceridemia.
- ⚠Results require clinical correlation and genetic counseling for accurate interpretation.
- ⚠Turnaround time is 3 to 4 weeks, which may delay diagnosis in urgent cases.
Risks & Considerations
- ●Minimal physical risks from blood collection, such as bruising or discomfort.
- ●Potential psychological impact from test results, including anxiety or stress.
- ●Risk of incidental findings unrelated to hypertriglyceridemia.
Frequently Asked Questions
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Why choose DNA Labs India for this test?
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