Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations
Ordering Recommendation

Preferred initial molecular test to confirm a diagnosis or identify carriers of medium chain acyl-CoA dehydrogenase (MCAD) deficiency for individuals with suggestive clinical and/or biochemical findings. To diagnose or rule out MCAD deficiency, refer to Acylcarnitine Quantitative Profile, Plasma (0040033), Acylglycine, Quantitative, Urine (0081170), and Organic Acids, Urine (0098389).

Polymerase Chain Reaction/Fluorescence Monitoring
DNA isolation: Sun-Sat; Assay: Sun-Sat
1-3 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Negative: The patient is negative for the ACADM 985A>G and 199T>C mutations. Persons affected with MCAD deficiency may have rare mutations in ACADM or other genes not detected by this assay.
Interpretive Data
Interpretive Data:
Background Information for Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations:
Limited mitochondrial fatty acid beta-oxidation leading to hypoglycemia, lethargy, seizures, hypoketotic aciduria, vomiting, hepatomegaly, hepatic failure, encephalopathy, and sudden death. Manifestations often triggered by prolonged fasting or other metabolic stressors.
1 in 15,000.
Autosomal recessive.
Deleterious ACADM gene mutations.
Clinical Sensitivity:
75 percent for MCAD deficiency.
Mutations Tested:
ACADM mutations c.985A>G (p.K329E, also known as K304E) and c.199T>C (p.Y67H, also known as Y42H).
Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity and Specificity:
99 percent.
Diagnostic errors can occur due to rare sequence variations. ACADM mutations other than c.985A>G and c.199T>C will not be detected.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
0051209MCAD Mutation A985G50397-9
0051217MCAD Mutation T199C
0051242Medium Chain Acyl-CoA Interpretation43242-7
2001328MCADPCR Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • MCAD Deficienc
  • MCAD gene mutation assay