NUDT15 Gene Variant (Duplication) in Whole Blood
This test checks for a genetic duplication in the NUDT15 gene found in your blood. Genetic testing like this may be done if you have a family history of certain blood disorders or if you’re being evaluated for a suspected genetic condition.
["Genetic testing helps identify changes in your DNA that could affect how your body functions."]
Key facts at a glance
- LOINC
- 100668-3
- Short code
- NUDT15 gene c.50_55dup Bld Ql
- Synonyms
- NUDT15 gene c.50_55dup Bld Ql
- 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 symptoms or a family history linked to genetic conditions involving the NUDT15 gene, such as severe neutropenia (low white blood cell count) or other blood-related disorders. It could also be part of prenatal testing if you’re at risk for genetic conditions.
What to Expect Before the Test
No special preparation is needed. You’ll provide a small sample of whole blood, typically drawn from your arm. The process is quick and similar to a regular blood draw.
What the Results Mean
Results will show whether you have the NUDT15 gene duplication. This variant can sometimes lead to reduced production of certain enzymes, which may affect your immune system or blood cell function. Your doctor will discuss the results in the context of your medical history and symptoms.
Common Questions About This Test
Genetic testing can feel overwhelming, but it’s a standard way to understand how your genes might influence your health. This test is not a routine screening for everyone but is used specifically for individuals at risk or those with suspected genetic conditions.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
The NUDT15 gene duplication can sometimes be associated with conditions like congenital neutropenia, where the body produces too few neutrophils (a type of white blood cell critical for fighting infections). While many people with this variant have no symptoms, it’s important for your doctor to monitor you closely if you have a family history or related symptoms. Genetic testing helps tailor medical care and early intervention strategies.
Short name
NUDT15 Gene Mutation Test
Frequently asked questions
Will this test affect my insurance or treatment options?
How long will it take to get my results?
Can I ask my doctor about genetic testing before having 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