3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8113 MCCC1 81406 81406,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8113MCCC181406 81406, 81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average


Genetic Counselors


Clinical Features and Genetics

Clinical Features

3-methylcrotonyl-CoA carboxylase (MCC) deficiency (OMIM 210200 and 210210) is a defect in the catabolism of the amino acid leucine. MCC is the next enzyme after isovaleryl-CoA dehydrogenase in the degradation pathway. MCC deficiency leads to abnormally high levels of 3-methylcrotonylglycine in the urine and 3- hydroxyisovalerylcarnitine in the blood. MCC deficiency is one of the most frequent disorders detected through neonatal screening with tandem mass spectrometry. The most severe forms of MCC deficiency have onset in infancy and are characterized by episodes of vomiting, lethargy, and muscle weakness. These episodes can lead to seizures, coma, and death. A variety of other, mostly neurological, symptoms have been reported.


3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder. The MCC enzyme has two subunits, α and β, encoded by the MCCC1 (also called MCCA) and MCCC2 (MCCB) genes, respectively. Variants in either gene can lead to MCC deficiency. No differences in clinical features have been reported for variants in MCCC1 versus MCCC2. About 30 different causative variants have been reported in MCCC1 and 45 in MCCC2 (Gallardo et al. Am J Hum Genet 68:334-346, 2001; Baumgartner et al. J Clin Invest 107:495-504, 2001; Dantas et al. Hum Mut 26:164, 2005; Stadler et al. Hum Mut 27:748-59, 2006). In both genes, the causative variants are about equally split between missense and nonsense/frameshift/splicing. No common variants have been reported. Variants are distributed throughout the lengths of the genes. Although nearly all MCC deficiency patients detected by neonatal screening carry likely causative variants, it appears that many such patients, perhaps even the great majority, will not experience significant health problems (Dantas et al. 2005; Stadler et al. 2006). The genetic or non-genetic factors which exert such strong control over the expressivity of the variants are currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the MCCC1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV PGxome

Stadler et al. 2006 reported detecting two causative variants by sequencing the MCCC1 and MCCC2 genes in 28 out of 28 patients.

Indications for Test

All MCC deficiency patients are candidates for this test. In cases where DNA from an affected child is unavailable, we will sequence the genes in parents or other family members. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MCCC1.


Official Gene Symbol OMIM ID
MCCC1 609010
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency AR 210200


  • Baumgartner, M. R., et.al. (2001). "The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency." J Clin Invest 107(4): 495-504. PubMed ID: 11181649
  • Dantas, M. F., et.al. (2005). "3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening." Hum Mutat 26(2): 164. PubMed ID: 16010683
  • Gallardo, M. E., et.al. (2001). "The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism." Am J Hum Genet 68(2): 334-46. PubMed ID: 11170888
  • Stadler, S. C., et.al. (2006). "Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment." Hum Mutat 27(8): 748-59. PubMed ID: 16835865


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

loading Loading... ×


View Ordering Instructions

1) Select Test Type

2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Total Price: $
Copy Text to Clipboard