Citrate synthase activity in amniotic fluid
This test measures the activity of citrate synthase, an enzyme involved in the Krebs cycle (also called the citric acid cycle), within amniotic fluid. It may be used during pregnancy to assess fetal metabolic health or detect certain genetic conditions.
["This test helps evaluate fetal metabolic function or potential genetic risks during pregnancy."]
Key facts at a glance
- LOINC
- 49938-4
- Short code
- Citrate Synthase Amn-cCnt
- Synonyms
- Citrate Synthase Amn-cCnt
- Category
- chemistry
- Sample
- fluid
- Container
- Sterile tube
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Specimen volume
- 2-5 mL
- Stability
- Room temperature: 2h, Refrigerated: 24h
- Hemolysis max
- 300
- TAT
- 4–24 hours
- Order
- routine
Why is this test done?
Your healthcare provider may order this test if you are at higher risk for certain genetic disorders (e.g., mitochondrial diseases) or if there are concerns about fetal metabolic health. It can sometimes be part of a broader evaluation for conditions like Smith-Lemli-Opitz syndrome or other inherited metabolic issues.
What does the result mean?
Citrate synthase activity in amniotic fluid is typically measured as an enzyme activity level. Abnormal results may indicate metabolic dysfunction in the fetus, though interpretation requires clinical correlation with other findings. Your doctor will discuss the results in the context of your pregnancy and medical history.
What preparation is needed?
No special preparation is required for this test. Amniotic fluid is collected during an amniocentesis procedure, which is generally performed under ultrasound guidance. Your healthcare provider will explain the process and any risks involved.
What are the possible risks?
Amniocentesis carries a small risk of complications, such as infection, preterm labor, or fetal injury. Most procedures are completed safely, and your provider will discuss potential risks and benefits before the test.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Citrate synthase activity in amniotic fluid can help identify inherited metabolic disorders that may affect fetal development. Low or altered enzyme activity may suggest conditions like Smith-Lemli-Opitz syndrome or other mitochondrial or metabolic disorders. Results are used alongside other diagnostic tests to guide further evaluation.
Short name
Amniotic fluid citrate synthase
Frequently asked questions
Will this test be done if I have a normal pregnancy?
How long will I need to wait for results?
Can this test detect all genetic conditions?
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