Genetic Mutation Screening in Whole Blood
This test checks for specific genetic mutations in your blood, which may help identify inherited conditions or guide personalized treatment options.
["A genetic mutation test can provide important insights into your health risk for certain inherited disorders."]
Key facts at a glance
- LOINC
- 57314-7
- Short code
- SRY gene Mut Tested Bld/T
- Synonyms
- SRY gene Mut Tested 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
This test measures specific substances in your body, such as cells, chemicals, proteins, or hormones, that can reveal important information about how well your organs are working and whether there are signs of illness, infection, or other conditions that may need a closer look.
This test analyzes DNA from your blood sample to detect known mutations in genes associated with inherited conditions. The test may screen for a range of mutations depending on clinical indication, such as those linked to cancer predisposition, metabolic disorders, or other genetic syndromes.
During the test, a small sample is collected from your body, most often a sample of blood, urine, or other body fluid, and sent to a laboratory. Trained professionals there use specialized equipment to measure the levels of the substances being tested and prepare a report for your healthcare provider.
Whole blood is collected and processed to extract DNA. Advanced laboratory techniques, including next-generation sequencing or targeted mutation detection, identify specific genetic variations in the selected genes.
Your doctor may order this test to help diagnose a medical condition, find out how well a treatment is working, monitor an ongoing health problem, or screen for disease before symptoms appear. It can also be part of a routine checkup to give your care team an overall picture of your health.
Your healthcare provider may recommend this test if you have a family history of certain genetic conditions, symptoms suggestive of a genetic disorder, or if you are at high risk for inherited diseases.
Before the test, your healthcare provider will give you specific instructions to follow. You may be asked to fast for a certain number of hours, avoid certain foods, drinks, or medications, or drink extra water. Be sure to tell your provider about all medicines, vitamins, and supplements you take, and ask any questions you have ahead of time.
No special preparation is needed for this test. You may have a small needle inserted into your arm to draw blood, similar to a regular blood draw. If you are pregnant or have certain conditions, discuss any precautions with your doctor.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance
Short name
Genetic Mutation Test (Whole Blood)
Frequently asked questions
Identifying genetic mutations can help determine your risk for developing certain diseases, guide preventive measures, or inform treatment decisions. For example, detecting mutations linked to cancer may allow for early monitoring or targeted therapies.
Results from this test typically take 1 to 4 weeks, depending on the complexity of the genetic analysis and your healthcare provider’s workflow. Your doctor will contact you once results are available.
The most common side effect of a blood draw is mild bruising, swelling, or discomfort at the injection site. Rarely, there may be a slight reaction to the needle. If you experience excessive bleeding or pain, contact your healthcare provider.
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