Research collaboration

Sequencing of the SDHA-gene (NGS or Sanger) and copy number analysis (MLPA) in individuals suspicious of having pathogenic SDHA-variants or in additional associated genes: SDHx and the assembly factors: SDHAF1, SDHAF2, SDHAF3or SDHAF4resulting in a mitochondrial complex II deficiency or in hereditary paraganglioma-phaeochromocytoma syndrome.