The Delaware Public Health Laboratory Newborn Screening section tests for 37 genetic and metabolic diseases. Dried blood spot samples obtained from Delaware newborns are analyzed for the following: congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, sickle cell disease and other major hemoglobinopathies, amino acid disorders (e.g. phenylketonuria [PKU], maple syrup urine disease), organic acid disorders and fatty acid oxidation disorders (e.g. Medium Chain Acyl-CoA Dehydrogenase Deficiency [MCAD]). Early detection and management of these disorders prevents mental retardation and other catastrophic health problems in affected children.
Cystic Fibrosis-DNA Testing at the DPH Laboratory
Second tier testing for Cystic fibrosis (CF) DNA testing will be included in final Newborn Screening reports starting with specimens received in the laboratory on September 20, 2011, or accession number 2011263xxxx forward. This is the final step in a long road to bring CF molecular testing to Delaware.
Please note that only specimens with two consecutive flagged Immunoreactive Trypsinogen (IRT) results, falling in the high 3% of the population, will have CF-DNA testing performed, along with very high Immunoreactive Trypsinogen (IRT) values on initial specimens. See the Delaware algorithm for Cystic fibrosis testing for a diagram of the decision making process.
Delaware Public Health Laboratory (DPHL) is using the Hologic ASR CFTR mutation method to identify 40 of the most common CF disease-causing mutations plus four (4) polymorphisms. See Hologic Panel 40+4 (on the right) for specific mutations.
It is important to note that although we may report “no mutations found” as a result of our testing, it is still possible for the disease to be present, although very unlikely. There are 1000’s of mutations of the Cystic fibrosis gene, and it is impossible for any one method to identify all mutations. The Cystic Fibrosis Mutation Database site at http://www.genet.sickkids.on.ca/app will lead you to useful information about the variety of CFTR gene mutations.
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