Because of its high prevalence among individuals with MCAD deficiency, molecular testing for the K304E allele is performed initially by PCR amplification followed by restriction enzyme digestion or other methods that can discriminate between single nucleotide changes, such as ASO hybridization or ligation chain reaction amplification. Clinical testing for this mutation is widely available. When an affected individual is found to be heterozygous for the K304E mutation or in the rare instance when an affected individual is negative for the mutation, gene sequencing is performed on all 12 exons of the ACADM gene; however, relatively few laboratories offer screening of the entire ACADM gene. Additional mutations have been identified throughout the gene with no obvious mutation hotspot.
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