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
New York DOH Approval Status
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Frozen specimens in glass collection tubes.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
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.
Background Information for Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations:
Characteristics: 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.
Incidence: 1 in 15,000.
Inheritance: Autosomal recessive.
Cause: 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).
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. ACADM mutations other than c.985A>G and c.199T>C will not be detected.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|0051209||MCAD Mutation A985G||50397-9|
|0051217||MCAD Mutation T199C|
|0051242||Medium Chain Acyl-CoA Interpretation||43242-7|
- MCAD Deficienc
- MCAD gene mutation assay