NL
PDP1 - Pyruvate dehydrogenase phosphatase deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Pyruvate dehydrogenase phosphatase deficiency
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- 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:
605993
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PDP2 - Pyruvate dehydrogenase phosphatase deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Pyruvate dehydrogenase phosphatase deficiency
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
615499
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
