Why molecular diagnostics

The field has expanded rapidly in recent years. Tests are typically performed to determine whether or not patients have a gene mutation associated with a specific disease, either as an inherited or an acquired mutation. Inherited diseases can be tested for at the prenatal, newborn and adult stages of life. For example, a commonly inherited disease is cystic fibrosis CF.

If a newborn is found to have two mutations in the gene associated with CF, the baby is most likely to have the condition. The child can then be treated for the disease, which can prolong his or her life. Section Navigation. Facebook Twitter LinkedIn Syndicate. Find Resources. Not only did PCR bolster MDx in the clinical laboratory, it provided a foundation for the design and development of many variant detection schemes based on the amplification of DNA.

It helped establish 3 categories for variant detection , depending on the basis for discriminating the allelic variants: 1 enzymatic-based methods e. While many of these methods are now infrequently used in clinical microbiology, they paved the way to current, more sophisticated methods.

Source: Rodney Rohde. Share This. A single gene chip can even hold representative fragments from the entire human genome. Molecular diagnostics evaluates proteins in a cell, tissue, or organism, including the shape, function, and patterns of expression. Research seeks to identify proteins involved when normal cellular pathways support malignant growth.

In cancerous tissue, some of the proteins critical for normal communication are damaged, inactive, overactive, or missing entirely. The full set of proteins disrupting cellular communications may vary from one cancer type to another, and they may also vary somewhat from one patient to another with that type of cancer. The discovery that there are significantly fewer genes in the human genome than initially estimated has placed more emphasis on the role of proteins, not genes, in conferring biocomplexity to an organism.

Proteins are generally considered one step closer to biological function than genes and their analysis provides a more direct link making proteomics the key to understanding health and disease.

In order for proteomics to be useful in molecular diagnostics, many basic biological questions remain to be answered beginning with understanding the 'normal' protein architecture in a cell and then how and why that goes wrong in cancer.