MDH1 - Malate dehydrogenase deficiency

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Malate dehydrogenase deficiency

This product is also part of the following panels:

  • 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: 154200
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

MDH1 - Malate dehydrogenase deficiency

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

MDH1 - Malate dehydrogenase deficiency



€ 725
Gene

MDH1B - Malate dehydrogenase deficiency

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

MDH1B - Malate dehydrogenase deficiency



€ 725

MDH1B - Malate dehydrogenase deficiency

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Malate dehydrogenase deficiency

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

Method

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

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




€ 725