![]() A blood sample is collected with a heel prick from the newborn 24–48 hours after birth and sent to the lab for analysis. Newborn heel-prick blood sample collection Newborn screening - used just after birth to identify genetic disorders that can be treated early in life.As of 2015 it is the most sensitive and specific screening test for Down syndrome. It is performed on a sample of venous blood from the mother, and can provide information about the fetus early in pregnancy. Cell-free fetal DNA (cffDNA) testing - a non-invasive (for the fetus) test.Genetic testing is "the analysis of chromosomes ( DNA), proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes." It can provide information about a person's genes and chromosomes throughout life. According to the National Institutes of Health, there are tests available for more than 2,000 genetic conditions, and one study estimated that as of 2018 there were more than 68,000 genetic tests on the market. In addition to analyzing whole chromosomes ( cytogenetics), genetic testing has expanded to include the fields of molecular genetics and genomics which can identify changes at the level of individual genes, parts of genes, or even single nucleotide "letters" of DNA sequence. In the 1970s, a method to stain specific regions of chromosomes, called chromosome banding, was developed that allowed more detailed analysis of chromosome structure and diagnosis of genetic disorders that involved large structural rearrangements. Deviations from the expected number of chromosomes (46 in humans) could lead to a diagnosis of certain genetic conditions such as trisomy 21 ( Down syndrome) or monosomy X ( Turner syndrome). Early forms of genetic testing which began in the 1950s involved counting the number of chromosomes per cell. The variety of genetic tests has expanded throughout the years. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. 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. Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure.
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