NL
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
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
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
