NL
IDH3A - Isocitrate dehydrogenase deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Isocitrate dehydrogenase deficiency
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Vision 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:
601149
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
IDH3G - Isocitrate dehydrogenase deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Isocitrate dehydrogenase deficiency
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Vision 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:
300089
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
