Table 2.

Alternative testing strategies

Testing requirement	Alternative strategies for testing
Whole-genome numerical and structural abnormalities	Chromosome banding plus FISH/molecular testing for recurrent cryptic structural abnormalities or Array/NGS copy number analysis plus FISH/molecular analysis for recurrent structural abnormalities or Whole-genome NGS analysis including copy number and structural abnormalities
Targeted region-specific analysis for recurrent structural abnormalities deletions, gain, translocations	FISH for copy number and structural abnormalities or FISH for copy number plus molecular techniques for structural abnormalities or Molecular-based copy number (e.g. MLPA, PCR) plus FISH/molecular analysis for recurrent structural abnormalities or Targeted Array/NGS copy number analysis plus FISH/molecular analysis for structural abnormalities or Targeted NGS analysis, including copy number and structural abnormalities

NGS next generation sequencing