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Genetic Testing Categories

Tests fall into three categories: before conception, after conception, and after birth.

Presymptomatic Testing

A type of genetic test where a positive result indicates the individual will develop symptoms of a disease at some time in their life.

Predisposition Testing

A type of genetic test that indicates a higher likelihood of developing symptoms of a disease, but not definitively.

Preimplantation Screening

Technique to reduce the risk of having a child with a genetic disorder by detecting genetic changes in embryos prior to implantation.

Prenatal Screening

Detects changes in fetal genes or chromosomes before birth, typically offered during pregnancy if there is an increased risk.

Non-Invasive Procedures

Methods such as cell-free fetal DNA analysis from maternal blood, done after 8 weeks to reveal fetal sex and genetic abnormalities.

Invasive Procedures

Methods including chorionic villus sampling and amniocentesis used to test for genetic disorders during pregnancy.

Newborn Screening

Automatic testing conducted shortly after birth to identify genetic disorders, primarily serious conditions requiring early treatment.

Carrier Screening

Typically done for individuals with a family history of genetic disorders, identifying carriers who may pass on conditions to offspring.

Forensic Screening

Genetic testing used for legal purposes, including identifying or exonerating individuals in criminal cases.

Human Leukocyte Antigens (HLA)

Genetic markers on chromosome 6 important in immune response, transplants, and autoimmunity.

Adaptive Immune System

The part of the immune system that is slower, specific, and capable of remembering past infections to mount quicker responses.

Innate Immune System

The first line of defense in the immune system, providing a rapid and non-specific response to pathogens.

Cytokines

Molecules secreted by immune cells that help regulate and activate immune responses, including interferons and interleukins.

T-Cells

A type of immune cell that plays a key role in the adaptive immune response, trained to recognize and respond to antigens.

Macrophages

iAntigen processing cells (APCs) involved in digesting and presenting antigens to T-cells.

Antigen Processing Steps

Involves phagocytosis of invaders, digestion, attachment to MHC, and presenting MHC+antigen to T-cells.

Genetic Privacy

Concerns related to the confidentiality of personal genetic information, particularly in direct-to-consumer genetic tests.