Whole Exome Sequencing Analysis
This test analyzes the genetic material (DNA) from your blood sample to identify variations (mutations) in all the protein-coding regions of your genes, known as the exome. It helps identify potential genetic causes of diseases or conditions.
["WES can uncover rare genetic conditions that may not be detected by standard blood tests."]
Key facts at a glance
- LOINC
- 86205-2
- Short code
- Whole exome seq analysis Bld/T
- Synonyms
- Whole exome seq analysis 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
- CPT
- 86038
- 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 Whole Exome Sequencing Used For?
Whole exome sequencing is primarily used to diagnose rare genetic disorders, including inherited conditions, cancer predispositions, and developmental or neurological issues. It can also assist in understanding genetic risks for certain diseases or conditions that run in families.
How Is the Sample Collected?
A blood sample is drawn from your arm, similar to other blood tests. The DNA is extracted from your white blood cells and prepared for sequencing.
What Does the Test Involve?
After your blood sample is processed, the DNA is sequenced using advanced laboratory techniques to identify differences (mutations) in your genes compared to a reference genome. This process involves breaking down the DNA into smaller pieces, sequencing them, and reassembling the genetic information.
How Long Does It Take to Get Results?
Results from whole exome sequencing typically take several weeks to months, depending on the complexity of the analysis and the volume of samples being processed. Your healthcare provider will discuss the results with you once they are ready.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Whole exome sequencing can identify genetic mutations linked to a wide range of conditions, including inherited metabolic disorders, genetic cancers, and developmental disabilities. These findings can guide treatment decisions, inform family planning, and provide a clearer understanding of your health risks. However, not all genetic variations detected may be clinically significant, so interpretation is done by a geneticist or healthcare provider.
Short name
Whole Exome Sequencing (WES)
Frequently asked questions
Why might I need this test?
What are the possible risks or side effects?
No special preparation is needed for this test. You may be asked to fast before the blood draw if your doctor recommends it, but this is not always the case. Follow any specific instructions your healthcare provider gives you.
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