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Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. [1]
Carrier testing is a type of genetic testing that is used to determine if a person is a carrier for specific autosomal recessive diseases. [1] This kind of testing is used most often by couples who are considering becoming pregnant to determine the risks of their child inheriting one of these genetic disorders. [2]
Genetic analysis can be used generally to describe methods both used in and resulting from the sciences of genetics and molecular biology, or to applications resulting from this research. Genetic analysis may be done to identify genetic/inherited disorders and also to make a differential diagnosis in certain somatic diseases such as cancer.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
[30] [31] Genetic testing is essential to distinguish SCN from other neutropenia disorders. Genetic analysis also provides information on inheritance patterns, as SCN can be inherited in either autosomal dominant, autosomal recessive, or, in very rare cases, X-linked inheritance. [28]
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome .
Example calculation of a paternity index. In paternity testing, Paternity Index (PI) is a calculated value generated for a single genetic marker or locus (chromosomal location or site of DNA sequence of interest) and is associated with the statistical strength or weight of that locus in favor of or against parentage given the phenotypes of the tested participants and the inheritance scenario.
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.