Associated disorders

The ACADM gene is associated with medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MedGen UID: 65086).

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Invitae tests that include this gene:

Pathogenic variants in the ACADM gene are the only known cause of medium chain acyl-CoA dehydrogenase (MCAD) deficiency.

The ACADM gene encodes the enzyme medium chain acyl-CoA dehydrogenase (MCAD); which is the first enzyme in the beta-oxidation of medium chain fatty acids. Medium chain fatty acids are 4-12 carbons in length.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACADM NM_000016.5