NL
MDH1 - Malate dehydrogenase deficiency
This test is available for the following conditions:
- Conditions > Metabolic disorders > Malate dehydrogenase deficiency
This product is also part of the following panels:
- 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:
154200
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MDH1B - Malate dehydrogenase deficiency
This test is available for the following conditions:
- Conditions > Metabolic disorders > Malate dehydrogenase deficiency
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
