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. 2022 Dec 11;35:100852. doi: 10.1016/j.neo.2022.100852

Table 3.

Summary of selection of techniques discussed.

Technique Description Benefits Limitations
Genetic
Sanger sequencing [66] Sequences DNA with primers using fluorescent nucleotides and electrophoresis to generate sequence Highly accurate, long read length (400–900 bp) Low throughput, high cost
Droplet digital PCR (ddPCR) [67] Allows for detection of known variants based on primer, best for point mutations Small amount of CSF necessary, quantitative assay Assay is expensive, time-consuming set-up
Next generation sequencing (NGS) [66,68] Simultaneously sequences multiple DNA fragments for larger genome coverage Multiple platforms, can provide whole-genome/exome, allows discovery of new genes, low error rate Lower sensitivity, may require larger volumes of CSF, expensive, complex data analysis
Nanopore sequencing [11,69] Direct electronic analysis of nucleic acids fed through biologic pores Inexpensive, handheld; high sensitivity, requires small amounts of CSF Potentially high error rate
Proteins
Enzyme linked immunosorbent assay (ELISA) [70] Immuno assay to detect specific proteins of interest Rapid, standardized, high sensitivity, can be multiplexed Requires well-defined antibody to protein(s) of interest, no discovery ability
Liquid Chromatography-Mass Spectrometery (LC-MS) [71,72] Separates proteins in sample with chromatography and analyzes with MS High throughput, quantitative Extensive data processing, difficult to identify specific proteins, expensive equipment