Complete Blood Count (CBC): What This Common Blood Test Tells You About Your Health
This blood test looks for genetic changes (mutations) in the BCHE gene that affect the function of pseudocholinesterase, an enzyme important for muscle relaxation during anesthesia.
{"The BCHE gene provides instructions for making pseudocholinesterase, an enzyme that breaks down certain anesthetic drugs","Gene mutations can cause the enzyme to work poorly or not at all","This test helps predict if a patient may have prolonged muscle weakness after certain anesthesia medications","Results are reported as 'found' or 'not found' indicating presence of specific mutations","If mutations are found, doctors can choose alternative anesthetic medications"}
Key facts at a glance
- LOINC
- 56883-2
- Short code
- BCHEMUT
- Synonyms
- BCHE gene Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (lavender/purple-top) blood collection tube for whole blood; sterile container for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- molgen
- CPT
- 81290
- SNOMED
- 5304007
- Specimen volume
- 3-5 mL whole blood; minimum 1 mL for tissue samples in sterile transport medium
- Stability
- Whole blood: 7 days at 2-8°C; 4 weeks at -20°C; indefinitely at -80°C. DNA extracted from specimen: stable for years at -20°C or -80°C. Tissue: 24-48 hours at room temperature in transport medium, longer at refrigerated temperatures.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 168–720 hours
- Order
- routine
A complete blood count (CBC) is a routine blood test that measures the different cells in your blood, including red blood cells, white blood cells, hemoglobin, hematocrit, and platelets. These measurements give your healthcare team a snapshot of your overall health and can help detect a wide range of conditions, often before symptoms appear.
The BCHE gene mutation test is a molecular genetics test that analyzes your DNA to look for specific changes (mutations) in the BCHE gene. This gene provides instructions for making an enzyme called butyrylcholinesterase, also known as pseudocholinesterase. This enzyme is produced by the liver and found in blood plasma. Its main job is to break down certain anesthetic drugs, particularly succinylcholine and mivacurium, which are commonly used during surgery to cause temporary muscle relaxation.
Your doctor may order this test as part of a routine checkup, to look into symptoms such as fatigue, weakness, fever, unusual bruising, or bleeding, to help diagnose conditions like anemia or infection, or to monitor an ongoing health problem and see how well a treatment is working for you.
Your doctor may order this test if you or a family member have a history of unusual reaction to anesthesia, such as prolonged muscle weakness or paralysis after receiving succinylcholine or mivacurium. It may also be recommended before surgery if you have never had anesthesia but have family members with known pseudocholinesterase deficiency. Additionally, it may be used to confirm a diagnosis in patients with unexplained prolonged paralysis after anesthesia.
The test is done with a simple blood draw. A healthcare provider will clean a spot on your arm, wrap a snug band around your upper arm, and use a small needle to collect a sample of blood from a vein, usually on the inside of your elbow. The process takes only a few minutes, and you may feel a quick sting. Afterward, a bandage is placed on the site and you can return to your normal activities right away.
A healthcare professional will draw a blood sample from a vein in your arm. The blood is then sent to a laboratory where technicians analyze the DNA from your white blood cells. They look for specific mutations in the BCHE gene that are known to affect enzyme function. The test does not require any special preparation, and you can resume normal activities immediately after the blood draw.
Your results are compared with reference ranges that show what is typical in healthy people. Values that are higher or lower than normal can point to conditions such as anemia, infection, inflammation, or clotting problems, but a single abnormal number does not always mean you are ill. Your provider will look at the whole picture, including your symptoms and medical history, explain what your numbers mean, and let you know if any follow-up testing or treatment is needed.
Results are typically reported as 'mutations found' or 'mutations not found.' If mutations are found, it means you have a genetic variant that may reduce or eliminate the function of pseudocholinesterase enzyme. This does not mean you will definitely have problems with anesthesia, but it means your anesthesiologist should be aware so they can choose alternative medications. If mutations are not found, it suggests normal pseudocholinesterase function, though it does not completely rule out other factors that could affect anesthesia response.
Reference range
Negative for pathogenic BCHE gene mutations; wild-type (normal) genotype reported as 'No mutation detected.' Interpretation depends on clinical context and enzymatic phenotype correlation.N/A
No special preparation or fasting required. Patient should be informed of genetic testing implications and provide informed consent prior to specimen collection. Genetic counseling may be recommended.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
The clinical significance of finding BCHE gene mutations lies primarily in anesthesia safety. Patients with pseudocholinesterase deficiency may experience prolonged muscle paralysis (lasting hours instead of minutes) after receiving succinylcholine or mivacurium. This can be frightening and requires careful monitoring and supportive care until the effects wear off. Knowing about these mutations before surgery allows anesthesiologists to use different muscle relaxants that are broken down by other enzymes in the body. This test is particularly valuable for patients with personal or family history of unusual anesthesia reactions, as it helps guide personalized anesthetic management and prevents potentially dangerous complications.
Frequently asked questions
Is pseudocholinesterase deficiency the same as having the BCHE gene mutation?
Will having BCHE gene mutations affect my health in other ways?
Should my family members also get tested?
What happens if I need surgery and have BCHE gene mutations?
Can this test tell me if I will definitely have an anesthesia reaction?
Sources
- 1
- 2
- 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