Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Full Mutation Analysis by Next-Generation Sequencing
This test checks for specific genetic mutations in the G6PD gene, which can affect how your body processes glucose and may increase your risk of certain blood disorders.
["Understanding your G6PD gene mutations can help determine if you’re at higher risk for conditions like hemolytic anemia or other health concerns."]
Key facts at a glance
- LOINC
- 94231-8
- Short code
- G6PD gene Full Mut Anl Bld/T Seq
- Synonyms
- G6PD gene Full Mut Anl Bld/T Seq
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- sequencing
- Specimen volume
- 3 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 4–24 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms like fatigue, jaundice (yellowing of skin/eyes), or a history of unexplained anemia. It’s also used in genetic counseling for families with a history of G6PD-related conditions.
What to Expect Before the Test
No special preparation is needed. You’ll provide a blood sample, which is typically drawn from your arm. The test analyzes genetic material from your cells.
What the Results Mean
Results identify specific mutations in the G6PD gene. These mutations can vary widely and may affect enzyme function differently in each person. Your provider will discuss findings in the context of your symptoms and family history.
Common Conditions Linked to G6PD Mutations
Mutations in this gene are often linked to conditions like G6PD deficiency, which can cause red blood cell breakdown (hemolysis) when exposed to certain medications, infections, or foods (e.g., fava beans). Some mutations may also be associated with increased susceptibility to malaria.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
G6PD mutations are the most common inherited enzyme deficiency worldwide. While many mutations are mild and may cause no symptoms, others can lead to severe anemia or other complications. Early identification can help guide preventive measures, such as avoiding triggers or genetic counseling for family planning.
Short name
G6PD Gene Mutation Test
Frequently asked questions
What triggers might worsen G6PD-related symptoms?
How often should I get this test?
Can lifestyle changes help if I have a G6PD mutation?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy