Genetics genetic testing

define genetic testing

use of laboratory tests to look for genetic variations associated with a disease

list some different kinds of genetic testing

diagnostic tests, predictive tests, carrier tests, prenatal tests, newborn screening tests, pre implantation tests

what is factor V Leiden?

blood clotting disorder caused by a mutation in F5 gene
provides instructions for making a protein for coagulation
autosomal dominant w/ incomplete penetrance
heterozygotes have a lower chance of having issues

what are some other gene defects that can genetic tests be used for?

marfan syndrome, achondroplasia, fragile X

what can diagnostic tests be used for?

to diagnose someone with a genetic disorder

when a predictive tests used?

when there is a positive family history and an individual wants to understand his or her risk
example: BRCA1 and BRCA2 for breast cancer

when is carrier testing used?

when there is family history for a recessive condition
important for sickle cell anemia

what are non-invasive prenatal tests (NIPT)?

performed by analyzing fetal cell-free DNA
can be done as early as 9-10 weeks gestation and up to delivery
generally use fetal DNA/RNA the is found within mothers blood

what is the difference between second trimester screening and NIPT?

second trimester includes risk of open neural defects and some other issues

what are ethical issues associated with prenatal testing?

some parents do not want to know
others struggle with knowing because not sure what would do with knowledge

what is looked for with newborn screening?

usually autosomal recessive disorders
maple syrup disease, sickle cell, hypothyroidism, adrenal hyperplasia, galactosemia, phenylketonuria

what is preimplantation genetic diagnosis (PGD)?

reproductive technology used with IVF
used in embryos prior to implantation and pregnancy (trying to create a successful pregnancy)
occurs for each IVF cycle embryo