• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    3-MCC deficiencyMCCC1MCCC2
  • CPT Code(s):
    Contact KDL for billing information

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is a metabolic disorder involved in the disruption of leucine catabolism. Leucine is used as an energy source when glucose levels are low; defects in either 3-MCC genes (MCCC1 and MCCC2) may not efficiency degrade leucine. This results in potentially dangerous levels of intermediate metabolites of leucine catabolism pathway, specifically 3-hydroxylisovaleric acid or 3-methylcrotonylglycine. The clinical phenotype of this disorder may include feeding difficulties, weakness and poor muscle tone. This condition is inherited in an autosomal recessive manner. This next-generation sequencing test assess the coding region for the two genes associated with 3-MCC deficiency.

Reasons for Referral:

  • Confirmation of a biochemical diagnosis
  • Carrier testing
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

3-methylcrotonyl-CoA carboxylase Deficiency Panel (2 genes):


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