UGT1A1 Gene Mutation Status (Tay-Sachs Variant)
This test checks for a specific genetic variation in the UGT1A1 gene, which may affect how your body processes certain medications or contribute to inherited conditions like Crigler-Najjar syndrome.
["This genetic test helps identify a rare variant linked to potential drug interactions or metabolic conditions."]
Key facts at a glance
- LOINC
- 51951-2
- Short code
- UGT1A1 allele 1 Bld/T
- Synonyms
- UGT1A1 allele 1 Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- 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 a family history of conditions like Crigler-Najjar syndrome, severe jaundice in newborns, or if you’re considering medications that rely on UGT1A1 metabolism (e.g., certain chemotherapy drugs). It’s also sometimes used in prenatal screening for genetic risks.
What to Expect Before the Test
No special preparation is needed. A small blood sample will be taken, similar to a routine blood draw. Results are typically available within 1–2 weeks.
What the Results Mean
Results will indicate whether you carry the UGT1A1 allele variant associated with reduced enzyme function. This may influence medication choices or monitoring for metabolic issues.
Common Conditions Linked to This Variant
The variant may increase risk for conditions like severe jaundice in newborns (Crigler-Najjar syndrome) or altered drug metabolism, potentially affecting how your body processes medications like irinotecan.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
This test helps identify a genetic mutation that can alter drug metabolism, potentially causing severe reactions to certain medications. For example, the variant may lead to higher drug levels in your blood, increasing toxicity risks. It’s particularly relevant for patients with a family history of inherited metabolic disorders or those prescribed drugs metabolized by this enzyme.
Short name
UGT1A1 Mutation Screening
Frequently asked questions
What does a positive result mean for my health?
Will this test affect my ability to get pregnant?
How long will I need to wait for results?
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