Genetic disorder
A health condition caused by a change or abnormality in a person’s DNA or chromosomes. It may be inherited from a parent or arise spontaneously.
Gene mutation: A change in the DNA sequence of a gene. Gene mutations can alter protein production or function and cause genetic disorders.
DNA: The molecule that stores hereditary biological information in most organisms. Genetic disorders originate in changes to the DNA sequence or its organization.
Genetic testing: Analysis of DNA, chromosomes, or gene products to identify genetic variants or their effects. Testing can confirm a diagnosis, identify carriers, or clarify inherited risk.
Multifactorial disease: A condition arising from the combined effects of multiple genes and environmental influences. These conditions involve genetic contributions but do not follow a single-gene cause.
Carrier screening: Testing to identify people who carry variants associated with recessive or X-linked conditions. Screening can reveal reproductive risks even when carriers have no symptoms.
Chromosomal disorder: A condition caused by an abnormal number or structure of chromosomes. Chromosome gains, losses, or rearrangements can disrupt many genes at once.
Gene: A DNA sequence that contributes to a functional product, such as a protein or RNA molecule. Many disorders arise when a gene’s sequence or activity is altered.
Newborn screening: Testing shortly after birth to identify conditions for which early intervention can improve outcomes. Screening detects some genetic disorders before symptoms appear.
Infectious disease: A disease caused by pathogens such as viruses, bacteria, fungi, or parasites. Infections arise from pathogens rather than an inherited or spontaneous genetic change.
Prenatal diagnosis: Testing during pregnancy to determine whether a fetus has a specified condition or genetic change. It can identify certain genetic disorders before birth and inform care decisions.