About the MCAD Deficiency Test

What this test can tell you

This test can tell you if you have one or more gene variants associated with MCAD deficiency. This screening test looks for 5 of the most common genetic variants in the ACADM gene. These genetic variants account for the majority of MCAD deficiency cases. View the genetic variants we test. If the test shows that you have a genetic variant, you are a carrier for MCAD deficiency. If the test does not detect a genetic variant, your risk of being a carrier is less. Your risk of being a carrier for another variant in the ACADM gene will depend on race/ethnicity and family history. See how ethnicity affects MCAD deficiency carrier risk.

What this test can't tell you

There are rare, disease-causing variants in the ACADM gene that this test is not designed to detect. If you prefer to have more comprehensive clinical testing, please speak with your health care provider. This test can't tell you your risk of having a child with MCAD deficiency.