Genetic Testing and Disorders Overview

The fundamental building block of life, containing the instructions for building and maintaining an organism.

Tightly coiled strands of DNA that carry genetic information. Humans have 23 pairs.

Segments of DNA responsible for coding proteins, which determine our traits like eye color and hair color.

The process of examining a person's DNA to identify genetic disorders, predispositions, or carrier status. It helps diagnose diseases before birth and understand disease likelihood.

The use of genetic tests to screen for specific diseases before symptoms appear or even before a child is born. Helps identify individuals at risk.

Inherited diseases that are passed down from parents to offspring. They are present at birth.

The process of evaluating a pregnant woman's health and the developing fetus to assess risks and provide appropriate care.

The field of science concerned with the study of genes, heredity, and genetic variation. It has applications in medicine, agriculture, and biotechnology.

A trained professional who helps individuals and families understand genetic testing and its implications.

A change in the number of chromosomes, which can lead to developmental problems.

A change in the DNA sequence of a gene, which can cause a genetic disorder.

Genetic testing can identify carriers of a genetic disorder, meaning they can pass it on to their children even if they don't have the disorder themselves.

Genetic testing performed during pregnancy to check for chromosomal abnormalities or genetic disorders in the developing fetus.

Genetic testing that analyzes an individuals's risk for developing certain conditions based on their family history and genetic makeup.

A procedure used to test for specific genetic diseases in embryos before they are implanted in the mother's womb.

A test that analyzes a fetus's DNA while it's still in the womb, offering insights into potential genetic conditions.

A procedure that involves extracting amniotic fluid, which contains fetal cells, to analyze the baby's DNA.

A method used to extract chorionic villus cells from the placenta for DNA analysis, revealing information about the fetus's genetic makeup.

A type of genetic testing conducted on newborns shortly after birth. A small blood sample is analyzed to detect potential health conditions.

A laboratory procedure used to create millions of copies of a specific DNA sequence, such as a gene.

The first step in PCR where the DNA is heated to separate the double-stranded DNA into single strands.

The second step in PCR where the DNA primers bind to the target DNA sequence, initiating the copying process.

An enzyme responsible for adding nucleotides to the DNA strand during DNA replication.

Short sequences of DNA that bind to specific regions on the target DNA, indicating where the polymerase should start replicating.

Individual building blocks of DNA; they are added to the growing DNA strand during replication.

A specialized machine used to perform PCR, controlling the temperature cycles needed for the reaction.

The third step in PCR, where the temperature is raised to 72°C for Taq polymerase to add complementary nucleotides to the DNA, creating double-stranded copies.

The process of separating DNA fragments based on their size by applying an electric current through a gel.

A process where cells are broken open to release their contents, including DNA.

A technique used to separate different components of a mixture based on their density by spinning the mixture at high speed.

The fluid that remains above the solid pellet after centrifugation.

A "molecular scissor" that cuts DNA at specific sequences. These enzymes are essential for genetic testing since they allow scientists to identify and isolate the gene of interest.

Tiny differences in DNA sequences that can make individuals unique. These variations can influence traits and even cause diseases. They are single nucleotide changes in the DNA.

The process of making multiple copies of a specific DNA segment. This technique is essential for genetic testing as it amplifies the target DNA sequence for easier analysis.

The "bad" version of a gene that can lead to a disease. Scientists can use genetic testing to identify these variants and prevent or manage the disease.

The process of extracting DNA from cells. This involves breaking open the cells, separating the DNA, and purifying it for further analysis.

A chemical reagent used in DNA extraction to purify DNA from other cellular components. It binds to metal ions that can degrade DNA, removing contaminants and leaving pure DNA.