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2ohgluterateamnscnc

Published: August 9, 2026Updated: August 16, 2026

This test measures the level of 2-hydroxyglutarate, a special chemical substance, in the amniotic fluid that surrounds a baby in the womb.

Quick summary

{"Measures 2-hydroxyglutarate levels in amniotic fluid during pregnancy","Helps detect rare metabolic disorders that affect brain development","Used for prenatal diagnosis when there's concern about genetic conditions","Involves collecting amniotic fluid through a procedure called amniocentesis","Results help doctors plan appropriate care for the baby before birth"}

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
75036-4
Short code
2OH-gluterate Amn-sCnc
Synonyms
2OH-gluterate Amn-sCnc
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

What is this test?

The 2-hydroxyglutarate test measures how much of a substance called 2-hydroxyglutarate (2-HG) is present in the amniotic fluid. Amniotic fluid is the clear, slightly yellowish liquid that fills the sac around a developing baby during pregnancy. 2-Hydroxyglutarate is a type of molecule called an organic acid, which is normally found in small amounts in the body. However, when certain genes don't work properly, 2-HG can build up to higher levels.

Why is this test done?

This test is performed during pregnancy to check if a developing baby has a rare genetic disorder called 2-hydroxyglutaric aciduria or related conditions. These disorders affect how the body processes certain chemicals, leading to a buildup of 2-HG. This can cause problems with brain development and lead to developmental delays, seizures, or other health issues. The test helps doctors identify these conditions before birth so they can provide appropriate care and planning.

How is the sample collected?

The sample is collected through a procedure called amniocentesis. During this procedure, a thin needle is inserted through the mother's abdomen into the amniotic sac to withdraw a small amount of amniotic fluid. The procedure is guided by ultrasound to ensure safety. The fluid sample is then sent to a laboratory for analysis. While amniocentesis is generally safe, it does carry a small risk of complications such as infection, bleeding, or miscarriage, so the procedure is usually recommended only when there is a specific medical reason.

What do the results mean?

Normal results show low levels of 2-hydroxyglutarate in the amniotic fluid. Elevated levels suggest that the baby may have 2-hydroxyglutaric aciduria or a related metabolic disorder. If the test shows elevated 2-HG, doctors will typically recommend additional testing to confirm the diagnosis and determine the specific type of disorder. This information helps healthcare providers prepare for any special care the baby may need after birth and can guide treatment decisions.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Frequently asked questions

Is this test part of routine prenatal care?
No, this is not a routine test. It is typically only performed when there is a specific concern, such as a family history of metabolic disorders, abnormal findings on ultrasound, or when other screening tests suggest a possible problem. Your doctor will determine if this test is necessary based on your individual situation.
How long does it take to get results?
Results typically take several days to a couple of weeks, as the test requires specialized laboratory analysis. The exact time depends on the laboratory performing the test and the specific methods used.
What happens if the test shows elevated 2-HG levels?
If results show elevated levels, your doctor will likely recommend additional testing to confirm the diagnosis. This may include genetic testing or more detailed metabolic studies. A genetic counselor or metabolic specialist will help explain the results and discuss what this means for your pregnancy and baby's future care.
Does an abnormal result mean my baby will definitely be sick?
An elevated result suggests a higher likelihood of a metabolic disorder, but further testing is needed for a definitive diagnosis. Some variations in 2-HG levels can occur, and not all elevated results mean the baby will have severe symptoms. Your healthcare team will provide more detailed information based on your specific results.
Can this condition be treated before birth?
There is currently no treatment that can be given during pregnancy to correct 2-hydroxyglutaric aciduria. However, knowing the diagnosis before birth allows the medical team to prepare for immediate specialized care after delivery, which may include dietary modifications, medication, and early intervention services to optimize outcomes.
  1. 1
    MedlinePlus - Genetic DisordersSource
  2. 2
    Mayo Clinic - AmniocentesisSource
  3. 3
    National Institute of Neurological Disorders and Stroke - 2-Hydroxyglutaric AciduriaSource

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.

Medical Disclaimer

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