G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test
Short Name: G6PD Deficiency NGS Test
Also known as: G6PD deficiency genetic test, Hemolytic anemia NGS test, Glucose-6-phosphate dehydrogenase gene test
G6PD Gene Hemolytic anemia due to G6PD 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the G6PD gene using NGS technology, confirming a diagnosis of G6PD deficiency hemolytic anemia, guiding clinical management, and assessing genetic risk for family members.
- Test Code
- 4697
- 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
Provide clinical history and undergo genetic counseling to draw a pedigree chart. No specific fasting required, but avoid recent blood transfusions if possible.
Method: Venipuncture or FTA card collection
Laboratory Analysis
A blood sample will be drawn via venipuncture or a drop collected on an FTA card. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the G6PD gene using NGS technology, confirming a diagnosis of G6PD deficiency hemolytic anemia, guiding clinical management, and assessing genetic risk for family members.
How to Prepare
- Ensure sample is collected in a sterile environment
- Label the sample correctly with patient details
- Transport the sample at ambient room temperature as specified
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for diagnosing G6PD deficiency, especially in patients with unexplained hemolytic anemia or family history, guiding personalized management and avoiding triggers."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Positive for pathogenic variant
Confirms G6PD deficiency; avoid triggers and consult a specialist for management.
Negative for pathogenic variant
No known mutations detected; consider other causes of anemia if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed; genetic counseling recommended.
Consult a doctor if you experience symptoms like jaundice, fatigue, or dark urine, especially after exposure to triggers. Also, consult for genetic counseling if results are positive or uncertain.
Limitations
- ⚠May not detect all possible genetic variants or epigenetic changes
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not replace clinical evaluation or enzyme activity tests in acute settings
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling available
Interfering Factors
- ●Recent blood transfusion may affect DNA analysis
- ●Sample contamination or improper storage
- ●Use of certain medications that alter DNA integrity
Compare With Similar Tests
| Test | G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test | G6PD Enzyme Activity Test | Complete Blood Count (CBC) | Hemoglobin Electrophoresis |
|---|---|---|---|---|
| Comparison | G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test |
Frequently Asked Questions
What is G6PD deficiency?
How is the NGS genetic test performed?
Who should consider this test?
What are common triggers for hemolysis in G6PD deficiency?
How accurate is the NGS genetic test?
Is fasting required before the test?
What does a positive result mean?
Can this test be used for prenatal diagnosis?
How long does it take to get results?
Is home sample collection available?
What should I do if I have symptoms after testing?
Are there any risks associated with the test?
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