HPRT1 Gene Mutation Analysis, Whole Blood
This test looks for changes (mutations) in the HPRT1 gene using a blood sample. Such mutations can cause Lesch-Nyhan syndrome or other disorders of uric acid metabolism.
["HPRT1 gene testing helps confirm or rule out inherited disorders linked to a defective HPRT enzyme."]
Key facts at a glance
- LOINC
- 53869-4
- Short code
- HPRT1 gene Mut Anl Bld/T
- Synonyms
- HPRT1 gene Mut Anl 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
What Is the HPRT1 Gene?
The HPRT1 gene provides instructions for making an enzyme called hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme helps recycle purines, the building blocks of DNA and RNA. When the gene is altered, the enzyme may be missing or not work properly, leading to a buildup of uric acid in the body.
Why Is This Test Done?
Doctors order HPRT1 gene testing when a person has signs of a purine metabolism disorder, such as unusually high uric acid, kidney or urinary problems in infancy, or developmental and movement difficulties. It can also be used to confirm a diagnosis when a family member is known to carry an HPRT1 mutation.
How the Sample Is Collected
The test is usually performed on a whole-blood sample collected from a vein in your arm. In some cases, a small blood spot or another tissue sample may be used. No special preparation is typically required, but follow any instructions from your healthcare provider.
Understanding Your Results
Results are reported as the presence or absence of a mutation in the HPRT1 gene. A positive result means a gene change was found and can help confirm a diagnosis. A negative result makes the condition less likely but may not rule out all possible causes. Your provider will interpret results alongside your symptoms and other tests.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
HPRT1 mutations are associated with a spectrum of disorders ranging from isolated high uric acid (Kelley-Seegmiller syndrome) to the severe neurological features of Lesch-Nyhan syndrome. Identifying a mutation can guide diagnosis, family counseling, and carrier testing for relatives. Genetic counseling is recommended before and after testing.
Short name
HPRT1 Mutation
Frequently asked questions
Is this test the same as a uric acid blood test?
Does a positive result always mean I have symptoms?
Can this test be used for family members?
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