BCS1 - Mitochondrial complex III deficiency
This test is available for the following conditions:
- Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
603647
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BTD - Biotinidase deficiency
This test is available for the following conditions:
- Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Hearing impairment panel (including GJB2)
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Mitochondrial disorders panel
- Movement disorders panel
- Skin disorders panel¹
- 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:
609019
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane