Table 1.
Sanger Sequencing | FISH | LOH Analysis | Next- Generation Sequencing (DNA) | SNP Array | MLPA | WGS/WES | Nanopore Sequencing | (Nested) MSP | RT-MSP | MS-MLPA | Pyrosequencing | Methylation Profiling | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Costs per assay | - | - | - | ~ | ~ | - | + | ~ | - | ~ | - | ~ | + |
Sensitivity | ~ | ~ | ~ | + | + | ~ | + | - | + | ~ | + | + | + |
Point mutations (eg, IDH1/2, ATRX, TP53) | • | ∆ | • | • | ø | • | • | ||||||
Codeletion 1p/19q | ø | ø | • | ∆ | • | • | • | • | |||||
Other CNVs (eg, EGFR amplification) | • | ø | • | ∆ | • | • | • | ||||||
Translocations/fusions (eg, KIAA1549-BRAF) | ∆ | • | |||||||||||
Methylation (eg, MGMT promoter/profile) | • | • | ∆ | • | ∆ |
Abbreviations: ATRX, α-thalassemia/mental retardation syndrome X-linked; BRAF, v-RAF murine sarcoma viral oncogene homolog B; CNV, copy number variation; EGFR, epidermal growth factor receptor; FISH, fluorescent in situ hybridization; IDH1/2, isocitrate dehydrogenase; LOH, loss of heterozygosity; MGMT, methyl guanine methyl transferase; MLPA, multiplex ligation-dependent probe amplification; MS, methylation specific; PCR, polymerase chain reaction; RT-MSP, reverse-transcriptase–methylation-specific polymerase chain reaction; TP53, tumor protein 53; WES, whole-exome sequencing; WGS, whole-genome sequencing.
LEGEND of symbols used: +: High; ~: Medium; -: Low; Δ: Preferred method; •: Possible alternative; ø: Least recommended.
Terms such as “preferred method,” “possible alternative,” and “least recommended” are based on the knowledge and experience of the authors; other laboratories may have a different point of view.