• 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 MUT gene is associated with autosomal recessive methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MedGen UID: 344424).

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Invitae tests that include this gene:

An estimated 60% of isolated methylmalonic acidemia cases are due to pathogenic variants in the MUT gene.

The MUT gene encodes the methylmalonyl-CoA mutase enzyme which is a component of propionate metabolism. Propionate metabolism is important for the catabolism of valine, methionine, isoleucine, threonine, and odd chain fatty acids into ultimately, succinyl-CoA, a component of the Krebs cycle. Specifically. methylmalonyl-CoA mutase converts L-methylmalonyl-CoA to succinyl-CoA. Adenosylcobalamin is a cofactor for this enzymatic reaction. Pathogenic variants in MUT lead to toxic accumulation of methylmalonic acid in the body.

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
MUT NM_000255.3