G6PD Gene Favism, susceptibility to NGS Genetic Test
Short Name: G6PD NGS Genetic Test
Also known as: G6PD Deficiency Genetic Test, Favism Genetic Test, Glucose-6-Phosphate Dehydrogenase Gene Test, G6PD Mutation Analysis, G6PD NGS Panel
G6PD Gene Favism, susceptibility to NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation 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 3, 2026
Overview
The purpose of the G6PD Gene Favism NGS Genetic Test is to identify mutations in the G6PD gene that cause glucose-6-phosphate dehydrogenase deficiency. This test enables definitive molecular diagnosis of G6PD deficiency, identifies the specific genetic variant responsible, determines carrier status in females, supports family planning decisions, guides avoidance of known hemolytic triggers, and facilitates personalized medical management.
- Test Code
- 2683
- CPT Code
- 81479
- ICD Code
- D55.0
- 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
- Next-Generation Sequencing (NGS), Sanger Confirmation
Sample Collection
No special preparation or fasting is required. Provide complete clinical history and family pedigree information. Inform the laboratory of any recent blood transfusions within the past 3 months.
Method: Venipuncture / FTA Card Prick
Laboratory Analysis
A blood sample of 3-5 mL will be collected via venipuncture into an EDTA tube, or a single drop of blood may be applied to an FTA card by a trained phlebotomist.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball. No specific post-collection restrictions are required. Results will be available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the G6PD Gene Favism NGS Genetic Test is to identify mutations in the G6PD gene that cause glucose-6-phosphate dehydrogenase deficiency. This test enables definitive molecular diagnosis of G6PD deficiency, identifies the specific genetic variant responsible, determines carrier status in females, supports family planning decisions, guides avoidance of known hemolytic triggers, and facilitates personalized medical management.
How to Prepare
- No fasting required before sample collection
- Carry a valid government-issued photo ID at the time of sample collection
- Provide complete clinical history and family medical history to the counsellor
- Inform the phlebotomist about any recent blood transfusions
- Sample can be collected at home or at any DNA Labs India collection center across India
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"G6PD deficiency is one of the most common enzyme deficiencies worldwide, affecting approximately 400 million people. NGS-based genetic testing allows precise identification of the specific G6PD variant, which is critical for personalized risk assessment and management. Patients with confirmed G6PD deficiency should be counselled about avoiding known triggers including fava beans, certain medications such as primaquine and sulfonamides, and naphthalene exposure. Early genetic diagnosis enables proactive management and helps prevent potentially life-threatening hemolytic episodes."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Sample collected in incorrect container (non-EDTA tube)
- Insufficient sample volume
- Sample without proper labeling or patient identification
- Severely degraded DNA upon quality assessment
Understanding Your Results
The G6PD gene does not show any known disease-causing mutations. This result does not completely exclude G6PD deficiency if clinical suspicion remains high; concurrent enzyme activity testing is recommended.
Confirms G6PD deficiency. The specific variant identified determines the WHO class and expected severity. Avoidance of known triggers including fava beans and certain medications is essential.
The individual is a carrier of G6PD deficiency. Due to X-chromosome inactivation (lyonization), carrier females may have variable enzyme activity and may be at risk for hemolysis under certain conditions.
A genetic variant was identified whose clinical significance is currently unknown. Correlation with enzyme activity testing and family studies is recommended. Re-analysis may be performed as new data becomes available.
Consult a hematologist or geneticist if you experience unexplained jaundice, dark-colored urine, fatigue, or shortness of breath after eating fava beans or taking certain medications. If you have a family history of G6PD deficiency, seek genetic counselling before family planning. Always consult your doctor before starting any new medication if you have been diagnosed with G6PD deficiency.
Limitations
- ⚠This test does not detect large chromosomal rearrangements or copy number variations affecting the G6PD locus unless specifically designed for structural variant detection
- ⚠Variants of uncertain significance (VUS) may be identified and may require further investigation or family studies
- ⚠Results should always be interpreted in conjunction with clinical presentation and enzyme activity assays
- ⚠This test does not replace the need for clinical evaluation by a qualified healthcare provider
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Very rare risk of infection at the puncture site
- ●Possible identification of variants of uncertain significance (VUS) which may cause anxiety and require further investigation
Interfering Factors
- ●Recent blood transfusion within the past 3 months may affect results due to donor DNA contamination
- ●Contaminated or degraded DNA samples may yield inconclusive results
- ●Presence of somatic mosaicism may complicate interpretation in rare cases
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Frequently Asked Questions
What is the G6PD Gene Favism NGS Genetic Test?
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What are raw data files (FASTQ and VCF) and why are they important?
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