Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing (INACTIVE as of 11/15/21: Refer to 3001851 in the November Hotline)

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.

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.