G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test
Short Name: G6PD Deficiency NGS Test
Also known as: G6PD deficiency test, Glucose-6-phosphate dehydrogenase deficiency genetic test, G6PD gene sequencing
G6PD Gene Hemolytic anemia due to G6PD deficiency 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 Reports are available in 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
The purpose of this test is to identify mutations in the G6PD gene that cause enzyme deficiency, leading to hemolytic anemia. It aids in accurate diagnosis, risk assessment for hemolytic episodes, carrier detection, and genetic counseling for affected families.
- Test Code
- 5585
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree chart as advised.
Method: Venipuncture or Finger prick
Laboratory Analysis
A blood sample will be drawn from a vein or finger prick. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.
Timeline: Reports are available in 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the G6PD gene that cause enzyme deficiency, leading to hemolytic anemia. It aids in accurate diagnosis, risk assessment for hemolytic episodes, carrier detection, and genetic counseling for affected families.
How to Prepare
- Ensure proper identification
- Use sterile equipment
- Label samples correctly
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early detection of G6PD deficiency through genetic testing can help manage symptoms, prevent hemolytic crises, and guide family planning. Consult a geneticist for personalized care."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient volume
- Incorrect labeling
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms G6PD deficiency. Risk of hemolytic anemia. Avoid triggers and consult a hematologist.
No pathogenic variant detected
No mutation identified. Symptoms may be due to other causes. Further testing may be needed.
Variant of uncertain significance
Genetic counseling recommended. Repeat testing or family studies may clarify.
Consult a doctor if you experience symptoms of hemolytic anemia, have a family history of G6PD deficiency, or before taking medications that may trigger episodes.
Limitations
- ⚠May not detect all rare variants
- ⚠Results require clinical correlation
- ⚠Not for acute diagnosis during crises
- ⚠Genetic counseling recommended for interpretation
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare infection risk
- ●No significant genetic risks from testing
Interfering Factors
- ●Recent blood transfusion
- ●Acute hemolytic episode
- ●Sample hemolysis
- ●Improper sample storage
Compare With Similar Tests
| Test | G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test | G6PD Enzyme Assay | Complete Blood Count (CBC) |
|---|---|---|---|
| Comparison | G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test |
Frequently Asked Questions
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