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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 .
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.
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]
These tables can be used to examine the genotypical outcome probabilities of the offspring of a single trait (allele), or when crossing multiple traits from the parents. The Punnett square is a visual representation of Mendelian inheritance , a fundamental concept in genetics discovered by Gregor Mendel . [ 10 ]
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.
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.
A genealogical DNA test is a DNA-based genetic test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or (with lower reliability) to estimate the ethnic mixture of an individual. Since different testing companies use different ethnic reference groups ...
[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]