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Molecular Diagnostic Technologies
Molecular diagnostic technologies have been reviewed in a detailed report on this
topic (Jain 2015c ) Molecular diagnostics are used for genetic testing and have the
potential to be applied for genetic screening of large populations. They can also be
used as adjunct to clinical trials. Molecular diagnostic technologies relevant to per-
sonalized medicine are shown in Table 2.1. Some of these technologies used for
Table 2.1 Molecular diagnostic technologies used for personalized medicinePolymerase chain reaction (PCR)-based methods
Cold-PCR
Digital PCR
DirectLinear™ analysis
Quantitative fl uorescent PCR
Real-time PCR
Reverse transcriptase (RT) PCR
Restriction fragment length polymorphism (RFLP)
Scorpions™: closed-tube platform for the effi cient homogeneous detection of PCR amplicons
Single-strand conformational polymorphism
Non-PCR methods
Enzyme mutation detection
Fluorescense resonance energy transfer (FRET) based assays: Invader assay
Locked nucleic acid (LNA) technology
Peptide nucleic acid (PNA) technology
Transcription-mediated amplifi cation
Gene chip and microfl uidic microarrays
Nanodiagnostics
Nanoparticle-based integration of diagnostics with therapeutics
Nanotechnology-based refi nement of diagnostics for pharmacogenetics
Toxicogenomics
Single nucleotide polymorphism (SNP) genotyping
Copy number variations (CNV)
DNA methylation studies
Gene expression based tests
DNA sequencing
Multiplex DNA sequencing
Next generation sequencing (NGS)
RNA sequencing
Whole exome sequencing (WES)
Whole genome sequencing (WGS)
Cytogenetics
Comparative genomic hybridization (CGH)
Fluorescent in situ hybridization (FISH)
(continued)