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. Recommended when Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations (0051205) does not identify two causative variants. 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/Sequencing
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Background Information for Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing:
Characteristics: Limited mitochondrial fatty acid beta-oxidation leading to hypoglycemia, lethargy, seizures, hypoketotic dicarboxylic 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: 95 to 99 percent
Methodology: Polymerase chain reaction (PCR) followed by bidirectional sequencing of the entire coding region and intron/exon boundaries of the ACADM gene.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|0051759||MCAD Deficiency (ACADM) Sequencing|
|2001361||MCAD FGS Specimen|
- MCAD ACADM
- MCAD Gene Sequence Analysis