Genetic disorders

Genetic disorders

Genetic diseases, syndromes, or conditions caused by genetic variations and abnormalities in genes or chromosomes.

Industry: Health care

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Genetic disorders

sensitivity

Health care; Genetic disorders

The frequency with which a test yields a positive result when the gene mutation in question is actually present in the individual being tested.

sterols

Health care; Genetic disorders

Steroids with a hydroxyl group at C-3 and most of the skeleton of cholestane. Additional carbon atoms may be present in the side chain. (IUPAC Steroid Nomenclature, 1987)

gametogenesis

Health care; Genetic disorders

The meiotic process by which mature gametes (ova and sperm) are formed. Oogenesis refers specifically to the production of ova and spermatogenesis to the production of sperm.

specificity

Health care; Genetic disorders

The frequency with which a test yields a negative result when the gene mutation in question is not present in the individual being tested.

consanguineous

Health care; Genetic disorders

Of the same blood or origin; specifically: relating to or involving persons (as first cousins) that are relatively closely related.

Testing that reveals the specific alleles inherited by an individual; particularly useful for situations in which more than one genotypic combination can produce the same clinical presentation, as in ...