CLPB - 3-methylglutaconic aciduria type VII

This test is available for the following conditions:

  • Conditions > Metabolic disorders > 3-Methylglutaconic aciduria

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Movement disorders panel
  • Primary immunodeficiencies panel

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

Method

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

OMIM: 616254
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

AUH - 3-Methylglutaconic aciduria

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

AUH - 3-Methylglutaconic aciduria



€ 725

AUH - 3-Methylglutaconic aciduria

This test is available for the following conditions:

  • Conditions > Metabolic disorders > 3-Methylglutaconic aciduria

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel

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

Method

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

OMIM: 600529
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

CLPB - 3-methylglutaconic aciduria type VII

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

CLPB - 3-methylglutaconic aciduria type VII



€ 725
Gene

OPA3 - 3-Methylglutaconic aciduria

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

OPA3 - 3-Methylglutaconic aciduria



€ 725

OPA3 - 3-Methylglutaconic aciduria

This test is available for the following conditions:

  • Conditions > Metabolic disorders > 3-Methylglutaconic aciduria

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Vision disorders panel

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

Method

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

OMIM: 606580
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

SERAC1 - 3-Methylglutaconic aciduria

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

SERAC1 - 3-Methylglutaconic aciduria



€ 725

SERAC1 - 3-Methylglutaconic aciduria

This test is available for the following conditions:

  • Conditions > Metabolic disorders > 3-Methylglutaconic aciduria

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Movement disorders panel
  • Primary immunodeficiencies panel

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

Method

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

OMIM: 614725
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TAZ - 3-Methylglutaconic aciduria

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

TAZ - 3-Methylglutaconic aciduria



€ 725

TAZ - 3-Methylglutaconic aciduria

This test is available for the following conditions:

  • Conditions > Metabolic disorders > 3-Methylglutaconic aciduria

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

Method

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

OMIM: 300394
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TMEM70 - 3-Methylglutaconic aciduria

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

TMEM70 - 3-Methylglutaconic aciduria



€ 725

TMEM70 - 3-Methylglutaconic aciduria

This test is available for the following conditions:

  • Conditions > Metabolic disorders > 3-Methylglutaconic aciduria

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel

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

Method

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

OMIM: 612418
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725