Liquid biopsy: a step forward towards precision medicine in urologic malignancies

Table 1 Platforms used to analyze cell-free DNA in circulation

Method	Platform	Applications	Advantages	Limitations	Reference
PCR-based	Nested real-time PCR	• Known point mutations • Methylated genes	• Ease of use • Low cost	• Low sensitivity • Detect limited genomic loci	[129–131]
	Mutant allele-specific PCR
	Mass spectrometry
Digital PCR	Droplet digital PCR	• Known point mutations • Methylation	• Very high sensitivity • Quantitative	• Detect limited genomic loci	[132, 133]
Digital PCR	Microfluidic digital PCR	• Known point mutations • Methylation	• Very high sensitivity • Quantitative	• Detect limited genomic loci	[132, 133]
Targeted Sequencing	Safe-SeqS	• Selected SNV^a, SCNA^b and rearrangements	• High sensitivity • Low cost	• Less comprehensive than next gen sequencing	[134–136]
	Tam-Seq
	CAPP-Seq
Whole genome sequencing	karyotyping	• Genome wide SNV, SCNA and rearrangements	• Detect all genomic loci	• Expensive • Time consuming	[137–139]
Whole genome sequencing	PARE^c	• Genome wide SNV, SCNA and rearrangements	• Detect all genomic loci	• Expensive • Time consuming	[137–139]

^aSingle nucleotide variant, ^bSomatic copy number alteration, ^cPersonalized analysis of rearranged ends

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