types of genetic testing

Question 1

Carrier Testing

Answer 1

If the family has a history of a genetic disorder — such as sickle cell anemia or cystic fibrosis — or they are in an ethnic group that has a high risk of a specific genetic disorder, they may choose to have genetic testing before having children. An expanded carrier screening test can detect genes.

Question 2

Predictive Testing

Answer 2

If there is a family history of a genetic condition, getting genetic testing before symptoms manifest can show if they are at risk of developing that condition. For example, this type of test may be useful for identifying the risk of certain types of colorectal cancer.

Question 3

Pre-Implantation Testing

Answer 3

Also called preimplantation genetic diagnosis, this test may be used when a couple attempt to conceive a child through in vitro fertilization.
The embryos are screened for genetic abnormalities.
Embryos without abnormalities are implanted in the uterus in hopes of achieving pregnancy.

Question 4

Amniocentesis

Answer 4

In this prenatal genetic test, the doctor inserts a thin, hollow needle through the abdominal wall and into the uterus to collect a small amount of amniotic fluid for testing.

Question 5

Diagnostic Testing

Answer 5

If a family member has symptoms of a disease that may be caused by mutated genes, genetic testing can reveal if the suspected disorder is present. For example, genetic testing may be used to confirm a diagnosis of cystic fibrosis or Huntington’s disease.