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Newborn Screening

The BC Newborn Screening Program oversees newborn screening for 22 disorders for babies born in BC and the Yukon.

About 40 babies per year will be identified with one of 22 treatable disorders. The most common disorders are congenital hypothyroidism (CH), cystic fibrosis (CF), medium-chain acyl-CoA dehydrogenase deficiency (MCAD), and phenylketonuria (PKU).

Use the menu on the right to navigate through this section (use the + and - to expand and collapse the menu), which has information about the provincial guideline, disorders (including by-products of screening such as some CF carriers and hemoglobinopathy carriers), and blood collection.

Parent and family information is available in the Our Services > Newborn Screening Program section.  


Practice Change in Molecular Testing for Cystic Fibrosis (CF)
Effective October 2016, the second tier CF mutation panel is being performed by a new method (MiSeqDx). Read the memo from the
C&W Division of Laboratory Genetics & Genomics. The panel has been enhanced to include 130 CF causing variants. This will apply to all BC and Yukon newborns with an elevated IRT on the first tier assay. For reference, this list of CFTR variants shows the historical mutation panel that was used by the BC Newborn Screening Lab from November 2009 to September 2016, with the comparable nomenclature for the new mutation panel effective October 2016. 


SOURCE: Newborn Screening ( )
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