Genetic analysis of the UGT1A1 gene (full mutation screening via blood DNA sequencing)
This test checks for specific genetic variations in the UGT1A1 gene, which may affect how your body processes certain medications or metabolic processes.
["Your doctor may order this test if you have symptoms linked to genetic mutations in this gene or are taking medications metabolized by this enzyme."]
Key facts at a glance
- LOINC
- 93844-9
- Short code
- UGT1A1 gene Full Mut Anl Bld/T Seq
- Synonyms
- UGT1A1 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
Doctors may recommend this test if you experience side effects like severe jaundice, bile duct blockages, or unusual fatigue after taking medications like irinotecan (a chemotherapy drug). It can also be used for genetic counseling or before certain surgeries.
What to Expect Before the Test
No special preparation is needed. A small blood sample will be taken from your arm, similar to a routine blood draw. The sample is sent to a lab for DNA sequencing to analyze the UGT1A1 gene.
What the Results Mean
Results will identify whether you have certain full mutations in the UGT1A1 gene. These mutations can lead to conditions like Gilbert’s syndrome or affect how your body processes drugs. Your doctor will discuss the implications with you based on your medical history.
Common Conditions Linked to UGT1A1 Mutations
Full mutations in UGT1A1 are associated with conditions like severe hyperbilirubinemia (elevated bilirubin) or altered drug metabolism. Some individuals may also experience mild to moderate liver enzyme changes or unusual reactions to medications.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
UGT1A1 mutations can influence how your body breaks down medications like irinotecan, which may increase the risk of side effects such as diarrhea or neutropenia. These mutations can also be inherited and may require genetic counseling or adjustments in medication dosing. Your doctor will use these results to tailor treatment plans or monitor you more closely.
Short name
UGT1A1 Gene Mutation Test
Frequently asked questions
What does a positive result mean for my health?
Will this test affect my ability to take certain medications?
How often will I need this test?
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