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Newborn Screening Program

Newborn screening is a simple blood test to identify babies who may have one of 24 treatable disorders. A newborn baby can look healthy but have one of these rare disorders.
For Healthcare Providers
The BC Newborn Screening Program oversees newborn screening for 24 disorders for babies born in BC and the Yukon. 

About 40 babies per year will be identified with one of 24 treatable disorders. The most common disorders are congenital hypothyroidism (CH), cystic fibrosis (CF), medium-chain acyl-CoA dehydrogenase deficiency (MCAD), and phenylketonuria (PKU).

To navigate through this section, use the menu below (you can expand (+) or collapse (-) the menu as needed. 

 

 

Newborn Screening Guideline

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. 

Frequently Asked Questions

 

To download or order Forms & Resources please visit: Forms & Resources

 
For Frequently Asked Questions about blood collection, including the blood spot card visit:
Blood Collection

For Families
Mother holding newborn footIf not treated, these 24 disorders can cause:

  • severe mental handicap;
  • growth problems;
  • sudden infant death; and 
  • other health problems.
Early detection allows for treatment that may prevent or greatly reduce these problems.  

Every newborn baby born in BC and Yukon qualifies for screening. Newborns are screened between 24 and 48 hours old, either in hospital or at home. There are about 40 babies born each year (one out of every 1,000) who are found to have one of these rare disorders.

Learn More

To learn more about newborn screening in BC:

For Families
Mother holding newborn footIf not treated, these 24 disorders can cause:

  • severe mental handicap;
  • growth problems;
  • sudden infant death; and 
  • other health problems.
Early detection allows for treatment that may prevent or greatly reduce these problems.  

Every newborn baby born in BC and Yukon qualifies for screening. Newborns are screened between 24 and 48 hours old, either in hospital or at home. There are about 40 babies born each year (one out of every 1,000) who are found to have one of these rare disorders.

Learn More

To learn more about newborn screening in BC:

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SOURCE: Newborn Screening Program ( )
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