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

positive predictive value (PPV)

Health care; Genetic disorders

The likelihood that an individual with a positive test result actually has the particular gene in question, is affected, or will develop the disease.

protein truncation testing (PTT)

Health care; Genetic disorders

Means of identifying the shortened (truncated) proteins that result from mutations which specifically cause premature termination of mRNA translation.

single-stranded conformational polymorphism (SSCP)

Health care; Genetic disorders

A process utilizing gel electrophoresis to identify a segment of DNA containing a mutation; can be used as the first step in mutation scanning.

uniparental disomy (UPD)

Health care; Genetic disorders

The situation in which both members of a chromosome pair or segments of a chromosome pair are inherited from one parent and neither is inherited from the other parent. Uniparental disomy can result ...