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SDHA - complex II deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex II deficiency
- Conditions > Neurological > Complex II deficiency
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Heart disorders panel¹
- Hereditary cancer panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- panel hereditary paragangliomas (SDHA, SDHB, SDHC, SDHD, SDHAF2)
- panel hereditary renalcancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
252011
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SDHAF1 - Mitochondrial complex II deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex II deficiency
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- 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:
612848
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SDHB -complex II deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex II deficiency
- Conditions > Neurological > Complex II deficiency
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- panel hereditary paragangliomas (SDHA, SDHB, SDHC, SDHD, SDHAF2)
- panel hereditary renalcancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
185470
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SDHD - Mitochondrial complex II deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex II deficiency
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- panel hereditary paragangliomas (SDHA, SDHB, SDHC, SDHD, SDHAF2)
- panel hereditary renalcancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602690
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
