MUT - Methylmalonic aciduria, vitamin B12 unresponsive type mut0
This test is available for the following conditions:
- Conditions > Metabolic disorders > Methylmalonic aciduria, vitamin B12 unresponsive
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
609058
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane