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Disorders Screened


The BC Newborn Screening Program screens babies for the following rare but treatable disorders:

When the body is not able to break down certain substances in food like fats, proteins or sugars. This is called a Metabolic Disorder. Substances can build up in the body and cause serious health problems, which can usually be prevented with early treatment.


Babies whose hormone glands make too little of certain hormones have an Endocrine Disorder. They can receive hormones to replace the ones their bodies cannot make, which can help prevent growth problems, mental handicap, and serious health problems such as shock or sudden unexpected death.


When the part of the red blood cell that carries oxygen throughout the body is different than usual, this is called a Blood Disorder. This part of the red blood cell is also called hemoglobin. Serious health problems can be prevented through medicines and special treatments.

A disorder that causes thick mucus to build up in the lungs, digestive system and other organs is called Cystic Fibrosis or CF. Most people with CF get chest infections. They also have problems digesting their food and, as a result, they may not gain weight as well as they should. Early treatment can be started with medicines and physical therapy. This help babies with cystic fibrosis digest food and keep their lungs clear of mucus. CF affects about 1 in every 3,600 babies in BC.

GAMT Screening Pilot Study

Starting in April 2012 we will begin a pilot study to screen for a new disorder called GAMT deficiency (guanidinoacetate methyltransferase deficiency). This is a rare disorder that leads to irreversible brain damage if untreated. Early dietary therapy, starting in the neonatal period, can stop this damage from occurring. All newborn screening samples submitted for routine testing will be included in the pilot. Please see our project summary for more information on this GAMT pilot study.


Updated: April 2, 2012