Infographic which explores the different molecular tumor testing test types. Created by NeoraHealth: mdcontroller.com

1. Various tests currently exist to identify genetic mutations, ranging in scope
from identifying a mutation across a single gene to detecting all the major
types of gene alterations. Looking forward, next-generation sequencing (NGS)
technologies, such as massively parallel sequencing, will change the way
laboratory tumor molecular profiling is performed.
Test Selection
CREDITS
This Infographic is brought to you by NeoraHealth, a Healthcare
focused Technology Company specializing in next generation Data
Solutions & Analytics. Learn more at: mdcontroller.com
Vnencak-Jones, C., M. Berger, W. Pao. 2016. Types of Molecular
Tumor Testing. My Cancer Genome (Updated February 8).
MOLECULAR TUMOR
TESTING
Overview of Test Types
The test(s) utilized in patient
diagnoses are determined by
the patient's history, needs,
and a variety of other factors,
including accessible
equipment and financial
feasibility.
Digital Droplet PCR – ddPCR
A limited, yet inexpensive, method
for targeting known mutations.
Beads, Emulsification,
Amplification, and Magnetics
– BEAMing
A highly specialized method for
targeting known mutations.
Sanger Dideoxy Sequencing
A labor intensive method used to
test for unknown mutations without
use of special equipment.
Allele-Specific PCR
A sensitive, target-specific method
which requires no special
equipment.
Mass Spectrometry – MS
A reliable, sensitive method for
detecting mutant DNA; tests multiple
genes.
Pyrosequencing
A limited method used to quickly
detect the presence of specific
mutations in DNA.
Multiplex Ligation-Dependent
Probe Amplification – MLPA
A quick test able to detect multiple
mutations simultaneously without
special equipment.
Single Base Extension Assay
A sensitive, reliable SNV-specific
test which tests multiple genes
without special equipment.
Next-Generation Sequencing
- Whole Genome Sequencing
A comprehensive, but expensive,
method used to detect mutations
across the entire genome.
Fluorescence In Situ
Hybridization – FISH
A method used to detect gene copy
number changes and targeted SVs.