GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NGS Genetic Test
Short Name: GPI Gene NGS Test
Also known as: GPI deficiency genetic test, Glucose phosphate isomerase deficiency NGS test, GPI gene mutation analysis
GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 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
The purpose of this test is to diagnose glucose phosphate isomerase deficiency by identifying pathogenic mutations in the GPI gene using NGS technology. It aids in confirming hemolytic anemia, guiding treatment decisions, and facilitating genetic counseling for affected families.
- Test Code
- 4696
- 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
No specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or FTA card spotting
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples as per instructions for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose glucose phosphate isomerase deficiency by identifying pathogenic mutations in the GPI gene using NGS technology. It aids in confirming hemolytic anemia, guiding treatment decisions, and facilitating genetic counseling for affected families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for diagnosing rare genetic anemias, aiding in family planning and management of affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed samples
- Incorrect labeling or missing patient information
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of GPI deficiency. Genetic counseling and management recommended.
No pathogenic variant detected
GPI deficiency unlikely, but clinical correlation needed. Consider other genetic or acquired causes.
Variant of uncertain significance
Further testing or family studies may be required for clarification.
Consult a doctor if you experience symptoms of hemolytic anemia such as jaundice, fatigue, or if there is a family history of the disorder. Genetic counseling is advised for positive results.
Limitations
- ⚠May not detect all possible mutations or variants of uncertain significance
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Not suitable for prenatal diagnosis without additional validation
Risks & Considerations
- ●Minimal risk from blood draw (bruising, infection)
- ●Genetic privacy concerns
- ●Psychological impact of results
Interfering Factors
- ●Hemolyzed blood samples
- ●Recent blood transfusion
- ●Contaminated DNA samples
Compare With Similar Tests
| Test | GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NGS Genetic Test | G6PD Deficiency Test | Pyruvate Kinase Deficiency Test | Complete Blood Count (CBC) | Bone Marrow Biopsy |
|---|---|---|---|---|---|
| Comparison | GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NGS Genetic Test | Different genetic disorder causing hemolytic anemia; tests for G6PD enzyme activity. | Another enzyme deficiency in glycolysis leading to hemolytic anemia. | General screening for anemia but not specific for GPI deficiency. | Invasive test to assess red blood cell production; may be used alongside genetic tests. |
Frequently Asked Questions
What is GPI Gene Hemolytic Anemia?
What are the common symptoms?
How is this disorder diagnosed?
What is the NGS Genetic Test?
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Is fasting required for the test?
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What does a positive result mean?
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