Table 1.

Types of tests available for genetic/genomic analysis in MM.

	Target	Cost per sample	Type of variants detected	Number of variants detected	Advantages	Limitations
WGS	Whole genome	~€1,500 per sample	Mutations (coding and non-coding), indels, aneuploidies, CNAs, structural rearrangements, signatures	Thousands	Comprehensive genomic characterization	Cost, analysis, storage of data, low depth
WES	Coding genome (2%)	~€500 per sample	Mutations (coding), indels, aneuploidies, CNAs	Hundreds	Lower cost, carries most of clinically useful information, easier analysis	No information on non-coding genome
Targeted	Custom number of genes/regions	Variable	Mutations (coding), indels, aneuploidies, CNAs	Variable	Customizable, lowest cost and complexity of analysis, limited storage required	Not useful for discovery approaches
FISH	Custom number of regions	~€100 per probe	Deletions, gains, translocations	None	Familiar to most laboratories, short turnaround time	No mutations detected, ideal for a low number of probes