A genetic disorder is a condition that is caused by an abnormality in an individual's DNA. Abnormalities can be as small as a single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes. To learn more about the different types of genetic disorders and see some specific examples, browse through the pages below.
Find out about aneuploidy, a type of genetic disorder where people have too many or too few chromosomes.
Read about specific examples of aneuploidy.
Learn about genetic disorders where pieces of chromosomes are inserted, deleted, or moved around.
Read about specific examples of unbalanced chromosomal arrangements.
Learn about disorders that are caused by a defect in just one gene.
Find out how single gene disorders can be inherited.
Read about specific examples of single gene disorders.
Take a look at complex diseases that are influenced by both genes and the environment.
Preimplantation genetic testing can be used to detect genetic disorders in embryos before they are allowed to implant in the uterus.
Learn the basics about preimplantation genetic testing, and what makes it different from other types of genetic tests.
What makes a condition a good candidate for testing? What's the difference between screening and diagnosis? Find out here, along with more about the testing processes.
Shortly after birth, all newborn babies in the US are screened for a panel of treatable genetic disorders.
Find out about the genetic screening that's done for nearly every baby soon after they're born.
See what happens to the leftover blood samples after they're used for newborn screening.