Reference Sequence for Blood DNA (Whole Blood)
This test analyzes the genetic sequence of DNA extracted from your blood to identify specific genetic variations or mutations.
["Genetic testing for blood DNA helps detect inherited conditions or variations that may influence health risks."]
Key facts at a glance
- LOINC
- 48012-9
- Short code
- Ref Sequence Seq Bld/T
- Synonyms
- Ref Sequence Seq 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 This Test Measures
The test involves sequencing the DNA from your blood cells to examine particular regions of your genome. This may include checking for known mutations linked to genetic disorders, cancer predispositions, or other inherited traits. The results are compared against known reference sequences to identify any deviations.
Why It’s Done
Your healthcare provider may order this test if you have a family history of genetic conditions, symptoms suggestive of a genetic disorder, or if you’re considering genetic counseling or carrier screening. It can also be used for prenatal testing, cancer risk assessment, or research purposes.
Sample Collection and Preparation
A blood sample is collected, typically from a vein in your arm. The blood is processed to extract DNA, which is then prepared for sequencing. This process may take several days to complete, depending on the complexity of the genetic analysis.
What to Expect Before the Test
No special preparation is usually needed beyond standard blood draw procedures. You may be asked to fast or avoid certain medications, but this depends on the specific clinical reason for the test. Always follow your healthcare provider’s instructions.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Frequently asked questions
Identifying genetic variations can help diagnose conditions like cystic fibrosis, sickle cell anemia, or certain cancers. It may also guide treatment decisions, such as genetic counseling, targeted therapies, or preventive measures based on your genetic profile.
Results can take anywhere from a few days to several weeks, depending on the complexity of the genetic analysis and the laboratory’s workload. Your healthcare provider will contact you once results are ready.
The most common side effect of a blood draw is mild discomfort or bruising at the injection site. Rarely, there may be a slight swelling or infection, but these are usually minor and resolve quickly.
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