Gene

PDK1 - Pyruvate dehydrogenase kinase deficiency

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

PDK1 - Pyruvate dehydrogenase kinase deficiency



€ 725

PDK1 - Pyruvate dehydrogenase kinase deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Pyruvate dehydrogenase kinase deficiency

This product is also part of the following panels:

  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 602524
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

PDK2 - Pyruvate dehydrogenase kinase deficiency

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

PDK2 - Pyruvate dehydrogenase kinase deficiency



€ 725

PDK2 - Pyruvate dehydrogenase kinase deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Pyruvate dehydrogenase kinase deficiency

This product is also part of the following panels:

  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 602525
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

PDK4 - Pyruvate dehydrogenase kinase deficiency

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

PDK4 - Pyruvate dehydrogenase kinase deficiency



€ 725

PDK4 - Pyruvate dehydrogenase kinase deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Pyruvate dehydrogenase kinase deficiency

This product is also part of the following panels:

  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 602527
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725