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Genetic Screening Analysis

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The genetic screening for newborns is designed to quickly identify genetic disorders and conditions, and to provide rapid treatment that may hinder normal development. Screening involves a blood test that is collected within the first 24 to 48 hours of life. The blood collected is sent to the laboratory for analysis; pediatricians and parents (if requested) receive the results. Abnormal results are brought to the attention of the physician, and testing is repeated to confirm the diagnosis.
The technologies used in the screening process are tandem mass spectrometry and MS/MS, both technologies are able to screen for over thirty disorders. Tandem mass spectrometry has been used for many years, but the MS/MS technology has been introduced within the last few years to identify both drugs and genetic disorders in the newborns. The …show more content…
“This test screens newborns for different genetic and metabolic conditions including; phenylketonuria (PKU), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and congenital adrenal hyperplasia (CAH)” ("Expanded newborn screening using new technologies. Financial, ethical, legal and social issues," 2014). MS/MS automated testing has proven quicker, more accurate, and less expensive than previous methods. States that have adopted this cost effective technology, are able to continue to provide the service free of charge and have improved turnaround time for results. Requirements and testing performed on newborns is solely dependent on the state in which they are born. All states are required to screen newborns, however some states

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