Application B Genetics

Presymptomatic genetic testing

Genetic testing of individuals who may have inherited a disease-causing gene mutation, to screen for a mutant allele before symptoms of the disease appear; goal is determine whether a person carries a mutation that will cause disease in the future

Carrier genetic testing (genetic carrier screening)

Genetic testing intended to determine whether or not a person is heterozygous for a mutant allele; used to determine if a person is a heterozygous carrier of a recessive allele that can cause disease in a homozygous recessive genotype

Prenatal genetic testing

Genetic testing conducted on a fetus in utero; used to identify inherited diseases, detect chromosome abnormalities, and identify skeletal or developmental abnormalities

Preimplantation genetic screening

Isolation of a single cell from a newly fertilized embryo before implantation, done to test DNA for a specific hereditary disease or condition. Used to check for hereditary diseases in fertilized embryos generated by in vitro fertilization

Direct-to-Consumer Genetic Testing

Genetic testing requested by an individual subscriber to whom the results and related information are then made directly available; used to find information about the inheritance of genetic markers that are associated with certain hereditary conditions

Guthrie test

Biochemical test used to detect the hereditary condition PKU; procedure used to identify newborn infant with PKU using blood from a heel stick

Pharmacogentic screening

A method of genetic screeding used to identify individuals who carry specific alleles that make them more or less sensitive than average to specific drugs or medications

Exome

The complete set of exons in a genome, which are the protein-coding regions of genes that are expressed into proteins

Maternal serum screening (triple screening)

A method used in prenatal genetic testing that uses maternal blood as a source of three hormones whose significantly elevated or reduced levels are associated with specific chromosome abnormalities of a fetus

Ultrasound

A clinical method used to visualize a fetus in utero

Fetal cell sorting

A method used as part of prenatal genetic testing that isolates fetal cells from maternal blood circulation for DNA, chromosomal, and biochemical testing

Amniocentesis

A method used as part of prenatal genetic screening to collect amniotic fluid for chromosome, DNA, and biochemical analysis

Chorionic villus sampling

A method used as part of prenatal genetic testing that collects a sample of the chorionic villus for chromosomal, DNA, or biochemical analysis

In vitro fertilization (IVF)

The method of assisted reproduction in which sperm and egg are mixed together outside the body to generate fertilized eggs

Associationo

The relationship between certain alleles and phenotypes that results in bearers of an allele being statistically more likely to express a particular phenotypic trait or characteristic