Specific genetic test (Sanger sequencing and copy number analysis) for suspected monogenic disorder
Next-generation sequencing (and copy number analysis) of panel of genes (eg suspected X-linked disorder or based on phenotype, eg epilepsy or neuro-imaging abnormality)
Chromosomal microarray and/or standard karyotype in cultured skin fibroblasts
Methylation tests at imprinted chromosomal loci, including methylation-specific MLPA test for Prader-Willi and Angelman syndromes
Triplet-primed PCR for myotonic dystrophy
Clinical exome sequencing or whole exome sequencing