depending on the disease and/or the diagnostic question/challenge e.g. conventional karyotyping, fluorescence in situ hybridization (FISH), single nucleotide polymorphisms (SNP) arrays, optical genome mapping (OGM), targeted mutation screening of genes of interest by PCR amplification and Sanger sequencing, targeted next generation sequencing (NGS) panels, whole exome, whole genome, whole transcriptome sequencing, …