Genetic testing is a medical test that identifies changes or mutations in an individual’s DNA sequence. It helps determine the risk of developing certain diseases, diagnose genetic disorders, and guide personalized treatment options.
Deoxyribonucleic acid, or DNA, is a molecule that contains the genetic instructions for the development, functioning, growth, and reproduction of all known living organisms.
A gene is a sequence of DNA that contains the information needed to produce a specific protein or perform a particular function in the body. Genes are the basic unit of heredity.
A mutation is a permanent alteration in the DNA sequence that can lead to changes in protein structure or function. Mutations can occur spontaneously or be inherited from parents.
A carrier is an individual who carries a genetic mutation for a particular disorder but does not display any symptoms of the condition. Carriers can pass the mutation on to their offspring.
A genetic disorder is a condition caused by abnormalities in an individual’s DNA sequence. These disorders can be inherited from parents or arise spontaneously due to mutations.
Pharmacogenetics is the study of how genetic variations affect an individual’s response to drugs. It aims to personalize medication regimens based on an individual’s genetic makeup.
Genetic counseling is a process that helps individuals and families understand the genetic risk of inherited conditions, navigate genetic testing options, and make informed decisions about their healthcare.
A genome is the complete set of genetic material (DNA) present in an organism. It includes all the genes and non-coding sequences that make up an individual’s genetic blueprint.
Next-generation sequencing is a high-throughput technology used to rapidly sequence large stretches of DNA or entire genomes. NGS enables comprehensive analysis of genetic variations associated with diseases and conditions.