Acylcarnitine Profile

Also known as: carnitine esters, acylcarnitine profile analysis.

What is an acylcarnitine profile?

An acylcarnitine profile is a blood test used to check for the presence of genetic disorders related to fatty acid oxidation and several organic acidurieas. If a patient is at risk of having these disorders or is suspected of having it, the doctor may order the test.
 

What happens during the procedure?

All that’s required for the test is a basic blood draw, typically from the arm but sometimes from another area of the body. Then the blood sample is taken to a laboratory for testing.
 

Is any special preparation needed?

Samples should be obtained prior to a scheduled meal or feeding; if clinically possible after an overnight fast. The most reliable results are obtained when the sample is collected during an acute illness, or after overnight fasting, if possible. Normal results however may not rule out some of the metabolic disorders although, it is possible to make the diagnosis when the patient is currently in stable metabolic condition.
Deliberate fast to provoke catabolism is not recommended.
 

What are the risk factors?

There are slights risks of infection, bleeding, bruising or swelling related to the blood draw.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 7/24/2018 5:07:45 PM

From the Newsdesk

Nicklaus Children's Hospital to offer new rapid genetic test
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Research Study: How your child's genetic makeup can impact the way he or she responds to certain medications
Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.