Complex II deficiency

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

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