Box 4.

Genetic investigations in specific cases

  • 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

  • Whole genome sequencing

  • MLPA = multiplex ligation-dependent probe amplification; PCR = polymerase chain reaction