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G6PD Gene Mutation Detection Test

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G6PD Gene Mutation Detection Test

Short Name: G6PD Mutation Test

Also known as: Favism, G6PD Deficiency Test, Glucose-6-Phosphate Dehydrogenase Mutation Test

G6PD Gene Mutation Detection Test test available at DNA Labs India for ₹7,500. Uses PCR on Whole Blood samples. Results in Reports are typically available within 10 days after sample collection, accessible via online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.

PCR-based Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

This assay is used for the detection of mutations in the G6PD gene to diagnose G6PD deficiency, an X-linked recessive genetic condition that predisposes individuals to hemolysis and jaundice in response to triggers like certain foods, illnesses, or medications.

Test Code
630
Price
₹7,500
Sample Type
Whole Blood
Result Time
Reports are typically available within 10 days after sample collection, accessible via online portal, email, or WhatsApp.
Fasting Required
No
Method
PCR
Step 1

Sample Collection

No special preparation required. Ensure proper patient identification and sample labeling with the Genomics Clinical Information Requisition Form (Form 20).

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure to collect 4 mL of whole blood in an EDTA tube. Maintain aseptic technique.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Monitor for any adverse effects. Store sample refrigerated if not shipped immediately.

Timeline: Reports are typically available within 10 days after sample collection, accessible via online portal, email, or WhatsApp.

Patient Instructions

1
Before the Test:No specific preparation is required. Inform your healthcare provider about any medications or supplements you are taking.
2
During the Test:A blood sample will be drawn from a vein in your arm using a needle. The procedure typically takes a few minutes.
3
After the Test:You may resume normal activities immediately. Apply pressure to the puncture site to minimize bruising. Report delivery will be within 10 days.

About This Test

Who Should Get This Test

This assay is used for the detection of mutations in the G6PD gene to diagnose G6PD deficiency, an X-linked recessive genetic condition that predisposes individuals to hemolysis and jaundice in response to triggers like certain foods, illnesses, or medications.

How to Prepare

  • Use a lavender top (EDTA) tube for blood collection
  • Collect 4 mL of whole blood (minimum 2 mL)
  • Ship refrigerated; do not freeze the sample
  • Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and accompanies the sample

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"G6PD deficiency is often asymptomatic until triggered by certain factors. Individuals with a family history or from high-risk regions should consider genetic testing for early detection and management to prevent hemolytic crises."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume4 mL (2 mL min.)
ContainerLavender top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Room Temperature: Not stable
Refrigerator: Up to 1 week
Frozen: Not applicable
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume (<2 mL)
  • Incorrect tube type (non-EDTA)
  • Unlabeled or improperly labeled sample
  • Missing or incomplete Genomics Clinical Information Requisition Form (Form 20)

Understanding Your Results

The G6PD Gene Mutation Detection Test results indicate the presence or absence of genetic mutations associated with G6PD deficiency. Interpretation should be based on the specific mutations detected and correlated with clinical findings.
Positive Result: One or more pathogenic mutations detected, indicating G6PD deficiency or carrier status. Consult a healthcare provider for management and genetic counseling.
Negative Result: No common pathogenic mutations detected. However, negative results do not rule out all possible mutations or conditions; clinical correlation is advised.
Inconclusive Result: Further testing or repeat analysis may be recommended due to technical issues or ambiguous findings.
Variant of Uncertain Significance (VUS): A mutation with unclear clinical significance identified; follow-up testing and monitoring may be necessary.
⚠️ When to Consult a Doctor:

Consult a healthcare provider if the test result is positive, if symptoms of G6PD deficiency persist, or if you have concerns about medication triggers or family planning. Genetic counseling is recommended for individuals with positive results.

Limitations

  • ⚠May not detect all rare or novel mutations in the G6PD gene
  • ⚠Cannot determine carrier status for all variants with certainty
  • ⚠Results should be interpreted in conjunction with clinical symptoms and other diagnostic tests

Risks & Considerations

  • ●Minor bruising or soreness at the puncture site
  • ●Rare risk of infection or hematoma
  • ●Fainting or dizziness in sensitive individuals

Interfering Factors

  • ●Recent blood transfusion
  • ●Certain medications (e.g., antimalarials, antibiotics)
  • ●Sample hemolysis or improper storage

Compare With Similar Tests

TestG6PD Gene Mutation Detection TestG6PD Enzyme Activity AssayComplete Blood Count (CBC)Bilirubin Level TestDirect Coombs Test
ComparisonG6PD Gene Mutation Detection Test

Frequently Asked Questions

What is G6PD deficiency?
G6PD deficiency is a genetic disorder where the glucose-6-phosphate dehydrogenase enzyme is deficient, leading to red blood cell destruction (hemolysis) when triggered by certain factors like medications, foods, or infections.
Who should get the G6PD Gene Mutation Detection Test?
Individuals with a family history of G6PD deficiency, those from high-risk ethnic groups (e.g., African, Asian, Mediterranean descent), or those showing symptoms such as jaundice, dark urine, or fatigue should consider testing.
What are the common symptoms of G6PD deficiency?
Symptoms include jaundice, dark urine, fatigue, shortness of breath, rapid heartbeat, abdominal pain, and enlarged spleen, often triggered by specific medications, foods like fava beans, or infections.
How is the G6PD Gene Mutation Detection Test performed?
The test analyzes a blood sample using PCR technology to detect mutations in the G6PD gene. A blood sample is collected via venipuncture and sent to the lab for analysis.
What is the cost of the G6PD Gene Mutation Detection Test at DNA Labs India?
The test costs Rs 7500.0 in India, with free home sample collection available in numerous cities across the country.
Is fasting required for the G6PD Gene Mutation Detection Test?
No, fasting is not required. However, ensure the Genomics Clinical Information Requisition Form (Form 20) is filled out before sample collection.
How long does it take to get the test results?
Results are typically available within 10 days after sample collection and can be accessed via online portal, email, or WhatsApp.
What does a positive G6PD gene mutation test result mean?
A positive result indicates the presence of genetic mutations associated with G6PD deficiency, meaning you may be at risk for hemolytic episodes. Consult a healthcare provider for management advice.
Can G6PD deficiency be cured?
There is no cure for G6PD deficiency, but it can be managed by avoiding triggers such as certain medications, foods, and infections. Early diagnosis helps in preventing complications.
Is the G6PD Gene Mutation Detection Test covered by insurance in India?
Coverage varies by insurance provider and plan. It is advisable to check with your insurance company directly. DNA Labs India offers the test at a fixed price with home collection options.
What are the risks associated with the test?
The test involves minimal risks, such as minor bruising or soreness at the blood draw site. Rare risks include infection or hematoma, but these are uncommon with proper procedure.
How should I prepare for the test?
No special preparation is needed. Ensure you have the filled Genomics Clinical Information Requisition Form (Form 20) and follow any instructions provided by the collection center.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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