Autosomal:
Autosomal: a trait or condition caused by a gene on an "autosome", meaning chromosomes 1 through 22. In other words, a characteristic not connected with the X or Y chromosome. Examples of autosomal genetic conditions include: Cystic Fibrosis and Sickle Cell Anemia.
Diagnostic Testing:
Diagnostic testing: a medical test that provides information that allows a physician to diagnose a condition.
Dominant:
Dominant: a form of a gene that, when present, overpowers the alternate (recessive) form. This is also referred to as the dominant allele.
Family History:
Family history: Information about health and medical issues in relatives. Family history is one of the most important tools a genetic counselor uses to identify genetic risk. Patterns of specific health issues in an individual’s family history are useful to determine the risk of disease and appropriate genetic testing options.
Genetic Testing:
Genetic testing: analyzing a person’s genetic material (i.e. chromosomes or genes) in order to identify changes which could lead to genetic disease or predisposition to disease.
Germline Testing:
Germline testing: testing typically performed on a blood or saliva sample to look for inherited genetic changes or changes that someone has from birth, which can be passed down from one generation to the next.
Genetic Information Nondiscrimination Act (GINA):
Genetic Information Nondiscrimination Act (GINA): a federal law passed in 2008 that protects people from their genetic information being misused and impacting their health insurance coverage or employment.
Hereditary/Inherited:
Hereditary/Inherited: a condition or disease that can be passed down from one generation to the next. Inherited conditions are determined by genetic factors.
Huntington Disease (HD):
Huntington Disease (HD): an inherited disease of the brain that gets worse over time. It can affect a person’s movements, balance, speech, thinking, behavior, and mood.
Informed Consent:
Informed consent: the process of learning key details about a medical treatment (such as a drug, surgery or test) to be able to decide whether or not to have the treatment or test.
Mutation (Genetic Mutation):
Mutation (genetic mutation): a change in DNA from its original state. Some mutations do not cause any problems, while others result in disease; however, this term is most often used when an individual has a genetic change that causes a health condition.
Pedigree:
Pedigree: a family tree using established symbols. Genetic counselors use pedigrees to review the family history and look for patterns that might suggest a risk for genetic disorders or health-related conditions in the family.
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