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Newborn Screening

Baby’s heel

The Delaware Public Health Laboratory Newborn Screening section tests for 38 genetic and metabolic diseases in addition to the two (2) disorders screened for at the birthing site (Hearing & Critical Congenital Heart Disease).

Dried blood spot samples obtained from Delaware newborns are analyzed for the following: congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, biotinidase deficiency, cystic fibrosis,sickle cell disease and other significant 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]), and Severe Combined Immunodeficiency (SCID - commonly known as 'bubble boy disease'). Check here for a complete list of disorders that all babies born in Delaware are tested for - List of Disorders

Early detection and management of these disorders prevents mental retardation and other catastrophic health problems in affected children.

Referred Molecular Testing

Delaware Public Health Laboratory is now referring second tier testing for Cystic fibrosis (CFTR gene mutations) to the Newborn Screening Program at the New York State Department of Health, 120 Scotland Avenue, Albany NY 12208, starting June 22, 2016. The mutation panel has changed from the Hologic ASR CFTR mutation method (no longer being manufactured) to the Luminex xTAG Cystic Fibrosis (CTFR) 39 kit v2 method, A listing of mutations is included.


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.

Check here to visit the Newborn Screening Program page for more information.

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