Medical genetics

Medical genetics is the specialty that uses genetic principles to diagnose, manage, and prevent inherited disorders and provide genetic counseling.

Clinical genetic testing: Laboratory analysis of DNA, chromosomes, or gene products to identify genetic variants relevant to health. It supplies evidence used to diagnose inherited conditions and guide care.
Pedigree chart: A diagram showing family relationships and the occurrence of traits or disorders across generations. Inheritance patterns in pedigrees help prioritize possible modes of transmission.
DNA: The molecule that stores hereditary information in most living organisms. Genetic testing examines DNA sequence and structure for clinically relevant differences.
Genetic screening: Testing people without symptoms to estimate whether they have or may develop a genetic condition. Screening identifies possible risk; medical genetics also evaluates symptoms and interprets diagnoses.
Genetic counseling: A process that helps people understand genetic information and make informed health and reproductive decisions. It communicates inherited risks, test results, and options without dictating choices.
Mendelian inheritance: The transmission of genetic traits according to patterns associated with allele segregation and chromosome behavior. Many inherited disorders follow recognizable dominant, recessive, or X-linked patterns.
Gene: A region of DNA that contributes to a functional product, such as a protein or RNA. Many inherited disorders result from variants affecting a gene's function.
Genetic susceptibility: An inherited predisposition that raises the probability of a condition without determining that it will occur. Susceptibility is not equivalent to a confirmed diagnosis of an inherited disorder.
Newborn screening: Testing of newborns for selected conditions where early detection can improve outcomes. It identifies treatable genetic disorders before symptoms appear.
Genotype–phenotype correlation: The relationship between a genetic makeup and the observable traits associated with it. It helps connect a detected variant with a patient's signs and symptoms.

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