Glossary | terms & definitions
Absorbent Material
Absorbent is a piece of material that can soak up and absorb liquid substances.
Autosomal recessive conditions
Develop if both parents carry a disease-causing variant in the same gene
Biohazard Bag
Bags that are specially made to contain medical or biohazardous material
Buccal Swab
A buccal swab is an instrument used to collect DNA from the cells inside of a person’s cheek. Buccal swabs are a relatively non-invasive way to collect DNA samples for testing. Buccal means cheek or mouth.
Carrier
A carrier is a person who has a genetic change, also known as a variant, in their DNA. Most of us are carriers for many genetic variants, but we do not know the gene variants we carry.
Carrier Screening
Carrier screening is a genetic screen that looks at the variants in a person’s DNA to determine the risk of having a child that may develop a genetic condition.
Cell containing nucleus
Contains the majority of the cell's genetic material. This material is organized as DNA molecules, along with a variety of proteins, to form chromosomes.
Chromosome
Rod-shaped structures located in the nucleus of a cell which contain hereditary (genetic) material. The rod is made up of a short (p) and long (q) arm. Humans have 23 pairs of chromosomes (46 in total, 23 from each parent). Two of the 46 are the sex chromosomes, which are X and Y chromosomes. Biological females have two X chromosomes and biologic males have one X and one Y chromosome.
Clinical Laboratory Improvement Amendments (CLIA)
A lab accreditation granting organization
College of American Pathologists (CAP)
A lab accreditation granting organization
Consent
Giving permission for your involvement and that you understand what is involved. Typically this involves signing a form (providing written consent).
DNA
Deoxyribonucleic acid (DNA) is the genetic instructions of everything living. The code/sequence of the DNA is made up of two types of paired molecules called bases: C+G or A+T. The DNA takes on a ladder-type structure, where the paired bases are the rungs. DNA is packaged into “chromosomes” and stored in the nucleus of cells.
Expanded Carrier Screening
A type of screening that analyzes more than 400 genes (out of 25,000) to identify if you are a carrier of a genetic condition.
Failed Result
When a test fails, a result may not be produced—an additional sample may need to be collected and the test repeated.
Food and Drug Administration (FDA)
The FDA is responsible for protecting the public health by ensuring the safety, efficacy, and security of human drugs, biological products and medical devices.
Gene
A hereditary unit/sequence of DNA on a chromosome that defines a characteristic.
Genetic
Referring to inherited conditions, usually due to genes located on the chromosome.
Genetic Counselling
A healthcare professional that has a Master’s of Science in Medical Genetics/Genetic Counselling. They provide information, support, and suggest options to prospective parents who may be concerned about risks of passing on genetic conditions.
Genetic Material
The material used to store genetic information in the nuclei or mitochondria of an organism's cells; either DNA or RNA
Genetic Screen
Genetic testing designed to identify individuals in a given population.
Geneticists
Scientists who study genetics.
Healthcare Professional
A health professional may operate within all branches of health care, including medicine, surgery, dentistry, midwifery, pharmacy, psychology, nursing or allied health professions. A health professional may also be a public/community health expert working for the common good of the society.
Heredity
Certain traits are passed from the biological parents to the children. It is passed through genes in the DNA molecule.
Molecule
A group of atoms bonded together, representing the smallest fundamental unit of a chemical compound that can take part in a chemical reaction.
Negative Result
The risk to be a carrier for the condition screened is reduced but not zero.
Next-Generation Sequencing (NGS)
A new and faster technology to sequence DNA or RNA.
Personal Health Information (PHI)
Any identifying information recorded about a patient and becomes part of their medical record or payment history.
Positive Result
A disease-causing or likely disease-causing variant was identified from a screening test and the possibility to be a carrier of a condition.
Protein
A large molecule made of amino acids – proteins do most of the work in cells and are required for the cell functioning correctly. In this way they regulate most of the organs and tissues in the body. Examples of proteins include antibodies and enzymes.
Raw Data
Lab-generated information of a DNA sample that can be downloaded in a .txt (text file) format.
Recessive
A genetic characteristic that must be inherited from both parents to be expressed.
Requisition
An order for a test to be done (usually must be from a doctor). This is often as a form that must be completed and brought with you when you go for a blood draw or testing.
Screening
Evaluation to assess. A positive screening test does not confirm the condition.
Specimen
A sample of a substance or material for examination or study
UN3373 Pak
A transport bag for biological substance to be used to ship samples to the across borders.
Variant (Disease causing variants / Pathogenic)
A change in the genetic code (DNA sequence). Although the term “mutation” is widely understood, the preferred term among the scientific and medical community is “variant”; not all changes in the DNA sequence cause disease, and “mutation” is often synonymous with disease-causing variants (i.e. pathogenic variants). These can be inherited or caused by the environment (radiation, chemicals). Some variants at the DNA-level do not result in a change at the protein-level (‘silent variants’), but some may cause a change in the protein and lead to diseases.
X-linked conditions
Disease-causing variant located on the X chromosome. Males that inherit disease-causing variants on the X chromosome are always affected, while females are often unaffected carriers.