NL
BOLA3 - Multiple mitochondrial dysfunctions syndrome with hyperglycinemia
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Multiple mitochondrial dysfunctions syndrome
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:
613183
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NFU1 - Multiple mitochondrial dysfunctions syndrome
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Multiple mitochondrial dysfunctions syndrome
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
- 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:
608100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
