MCCC2 - 3-Methylcrotonyl-CoA carboxylase 2 deficiency

This test is available for the following conditions:

  • Conditions > Metabolic disorders > 3-Methylcrotonyl-CoA carboxylase deficiency

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.7% **)
  • WES Mendelian inherited disorders (99.7% **)
  • WES metabolic disorders (99.7% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 609014
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

MCCC1 - 3-Methylcrotonyl-CoA carboxylase 1 deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

MCCC1 - 3-Methylcrotonyl-CoA carboxylase 1 deficiency



€ 725

MCCC1 - 3-Methylcrotonyl-CoA carboxylase 1 deficiency

This test is available for the following conditions:

  • Conditions > Metabolic disorders > 3-Methylcrotonyl-CoA carboxylase deficiency

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.4% **)
  • WES Mendelian inherited disorders (99.4% **)
  • WES metabolic disorders (99.4% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 609010
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

MCCC2 - 3-Methylcrotonyl-CoA carboxylase 2 deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

MCCC2 - 3-Methylcrotonyl-CoA carboxylase 2 deficiency



€ 725