COX15 - Mitochondrial complex IV deficiency
This test is available for the following conditions:
- Conditions > Metabolic disorders > Hyperhomocysteinemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Fetal akinesia panel
- Heart disorders panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Unsuccessful IVF treatments, recurrent molar pregnancies and/or recurrent pregnancy loss panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
603646
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane