NL
DLST - Alpha-keto acid dehydrogenase
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Alpha-keto acid dehydrogenase
This product is also part of the following panels:
- Hereditary cancer panel
- 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:
126063
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
OGDH - Alpha-ketoglutarate dehydrogenase deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Alpha-keto acid dehydrogenase
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- 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:
613022
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
