Molecular diagnostics

Molecular diagnostics is a collection of techniques used to analyze biological markers in the genome and proteome—the individual's genetic code and how their cells express their genes as proteins—by applying molecular biology to medical testing. The technique is used to diagnose and monitor disease, detect risk, and decide which therapies will work best for individual patients.

Overview

By analyzing the specifics of the patient and their disease, molecular diagnostics offers the prospect of personalized medicine. These tests are useful in a range of medical specializations, including infectious disease, oncology, human leucocyte antigen typing (which can be used to match patients and donors for bone marrow transplant), coagulation, and pharmacogenomics—the genetic prediction of which drugs will work best.

Techniques

Molecular diagnostic tests detect specific sequences in DNA or RNA that may or may not be associated with disease, including single nucleotide polymorphism (SNP), deletions, rearrangements, insertions and others. Clinical applications can be found in at least six general areas: infectious diseases; oncology; pharmacogenomics; genetic disease screening; human leukocyte antigen typing; and coagulation.

Applications

Molecular diagnostics are used to diagnose and monitor disease, detect risk, and decide which therapies will work best for individual patients. They are used in several medical specializations, including infectious disease, oncology, human leucocyte antigen typing, coagulation, and pharmacogenomics.

See also

• Genomics
• Proteomics
• Pharmacogenomics
• Infectious disease
• Oncology
• Human leucocyte antigen typing
• Coagulation

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