Glossary of Terms

Referring to a genetic change that causes disease.

Polymerase Chain Reaction: a process that produces millions of copies of a short segment of DNA. PCR is a very common procedure in molecular genetic testing and may be used to: 1) generate a sufficient quantity of DNA to perform a test, or 2) may be a test in and of itself.

A device that utilizes high frequency chest wall vibration that worn, promotes airway clearance and improvement of bronchial drainage.

Pulmonary Function Testing; used to assess how well one's lungs function by measuring how much air one can inhale, how much air one can exhale and how quickly one can exhale.

A phenotype is the observable characteristics of an individual due to an organism's manifiestations.

Protected Health Information is any information about health status, provision of health care, or payment for health care that can be linked to a specific individual.

Personally Identifiable Information is any data that could potentially be used to identify a particular person.

An immature or stem cell that has the ability to develop into the three primary germ cell layers of the early embryo and therefore into all cells of the adult body, but not extra-embryonic tissues such as the placenta.

Pharmaceuticals and Medical Devices Agency, a federal agency responsible for approving the trial and use of drugs and other interventions in Japan.

Collapsed lung; an abnormal collection of air in the pleural space that causes an uncoupling of the lung from the chest wall.

Polymerization is a process of reacting monomer molecules together in a chemical reaction to form polymer chains or three-dimensional networks.

A discountinous genetic variation resulting in the occurence of several differnt forms or types of individuals.

Sleep study; a test used to diagnose sleep disorders through the measurement of oxygen and CO2 levels, heart and breathing rate, eye and leg movement, and incidents of apnea (temporary cessation of breathing)

Pre-mRNA is the first form of RNA created through transcription in protein synthesis. The pre-mRNA lacks structures that the messenger RNA (mRNA) requires. First all introns have to be removed from the transcribed RNA through a process known as splicing. Pre-mRNA splicing is a common post-transcriptional process used by eukaryotic organisms to generate multiple transcript isoforms from a single gene. Eukaryotes are organisms whose cells have a nucleus enclosed within a nuclear envelope. 

The colorless material comprising the living part of a cell, including the cytoplasm, nucleus, and other organelles.