Glucose-6-Phosphate Dehydrogenase (G6PD) Full-Length Gene Sequence Analysis Test
Short Name: G6PD Full Gene Sequencing
Also known as: G6PD Gene Sequencing, Full G6PD Gene Analysis, G6PD Mutation Analysis
Glucose-6-Phosphate Dehydrogenase (G6PD) Full-Length Gene Sequence Analysis Test test available at DNA Labs India for ₹37,500. Uses Sanger Sequencing on Peripheral blood/Amniotic Fluid/Chorionic villi/Cord blood samples. Results in Results are typically available within 2-3 weeks after the sample reaches the laboratory.. 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 mutations in the G6PD gene that lead to enzyme deficiency. It is indicated for individuals with symptoms suggestive of G6PD deficiency, those with a family history, and for prenatal diagnosis in high-risk pregnancies. The test helps confirm diagnosis, guide management, and provide genetic counseling.
- Test Code
- 6106
- CPT Code
- 81479
- ICD Code
- D55.0
- Price
- ₹37,500
- Sample Type
- Peripheral blood/Amniotic Fluid/Chorionic villi/Cord blood
- Result Time
- Results are typically available within 2-3 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
No special preparation is required. However, a doctor's prescription is recommended. For prenatal samples, prior genetic counseling is advised.
Method: Venipuncture or as per specimen
Laboratory Analysis
Peripheral blood is collected by venipuncture. For amniotic fluid or chorionic villi, a specialist performs the procedure under ultrasound guidance.
Report Delivery
No specific precautions. Patients can resume normal activities immediately.
Timeline: Results are typically available within 2-3 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the G6PD gene that lead to enzyme deficiency. It is indicated for individuals with symptoms suggestive of G6PD deficiency, those with a family history, and for prenatal diagnosis in high-risk pregnancies. The test helps confirm diagnosis, guide management, and provide genetic counseling.
How to Prepare
- Use EDTA vacutainer for blood samples
- For amniotic fluid, use sterile container
- For chorionic villi, use sterile container with transport medium
- Samples should be transported at room temperature or on cool pack as per instructions
- Label the sample with patient's name, date, and time of collection
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"G6PD deficiency is an X-linked disorder that can cause neonatal jaundice and hemolytic anemia. Genetic testing is crucial for early diagnosis and management, especially in high-risk populations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood samples
- Clotted blood samples
- Incorrectly labeled samples
- Samples received after prolonged transit time
- Inadequate sample volume
Understanding Your Results
No pathogenic variants detected
G6PD deficiency is unlikely. However, if clinical suspicion remains, enzyme activity testing may be considered.
Pathogenic variant detected (e.g., G6PD A-, G6PD Mediterranean)
Confirms G6PD deficiency. The specific variant may correlate with enzyme activity levels and clinical severity.
Variant of uncertain significance (VUS)
The clinical significance is unknown. Further testing or family studies may be needed.
Consult a doctor if you or your child experience symptoms such as jaundice, dark urine, fatigue, or abdominal pain after exposure to triggers like certain medications, infections, or fava beans. Also, if you have a family history of G6PD deficiency, genetic counseling is recommended.
Limitations
- ⚠This test detects mutations in the G6PD gene but does not measure enzyme activity levels
- ⚠Large deletions or rearrangements may not be detected by Sanger sequencing
- ⚠Variants of uncertain significance may require further analysis
- ⚠Results should be interpreted in conjunction with clinical findings and enzyme assays
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the blood draw site
- ●For prenatal procedures, there is a small risk of miscarriage or infection (less than 1%)
- ●Emotional distress from receiving genetic results
Interfering Factors
- ●Recent blood transfusion can mask the patient's own genetic result
- ●Bone marrow transplantation may affect the genetic profile
- ●Contamination of sample with maternal cells in prenatal specimens
- ●Insufficient DNA quantity or quality
Compare With Similar Tests
| Test | Glucose-6-Phosphate Dehydrogenase (G6PD) Full-Length Gene Sequence Analysis | G6PD Enzyme Activity Assay | G6PD Targeted Mutation Panel |
|---|---|---|---|
| Comparison | Glucose-6-Phosphate Dehydrogenase (G6PD) Full-Length Gene Sequence Analysis | Measures enzyme function in red blood cells. It is cheaper and faster but can be affected by recent transfusions or reticulocytosis. Genetic testing provides definitive diagnosis. | Screens for common mutations only. Full gene sequencing detects all possible mutations, including rare ones. |
Frequently Asked Questions
What is G6PD deficiency?
How is G6PD deficiency inherited?
What are the symptoms of G6PD deficiency?
Why is full-length gene sequencing recommended?
What is the cost of the test?
How long does it take to get results?
Is fasting required for this test?
Can this test be done during pregnancy?
What is the sample type for this test?
Are there any risks associated with the test?
Will insurance cover the cost?
What should I do if my result is positive?
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