• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit




Associated disorders

The MLYCD gene is associated with autosomal recessive malonyl-CoA decarboxylase deficiency (MedGen UID: 91001).

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Invitae tests that include this gene:

Pathogenic variants in the MLYCD gene are the only known cause of malonyl-CoA decarboxylase deficiency (PMID: 17186413).

MLYCD encodes the malonyl-CoA decarboxylase enzyme. The enzyme converts malonyl-CoA to acetyl-CoA and the reverse reaction is catalyzed by acetyl-CoA carboxylase. These reactions are tightly regulated, which helps regulate fatty acid metabolism. Malonyl-CoA is an intermediate for fatty acid synthesis, but malonyl-CoA is also a negative regulator of carnitine palmitoyltransferase I; thereby acting as a negative regulator of fatty acid oxidation. The enzyme is found is tissues such as cardiac and skeletal muscle, brain, small intestine, liver, kidney and pancreas and within those tissues it is found in the mitochondria, peroxisomes and cytoplasm. (PMID: 10527927).

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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
MLYCD NM_012213.2