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DLAT - Pyruvate dehydrogenase deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Pyruvate dehydrogenase 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
- Movement 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:
608770
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PDHB - Pyruvate dehydrogenase deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Pyruvate dehydrogenase 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:
179060
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PDHX - Lacticacidemia due to PDX1 deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Pyruvate dehydrogenase 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
- Movement 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:
608769
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
